Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108897161_108897177dup | CA2832528871 | EDAR,RANBP2 | c.1077_1093dup (p.Asn365SerfsTer13) c.1173_1189dup (p.Asn397SerfsTer13) c.1224_1240dup (p.Asn414SerfsTer13) c.1128_1144dup (p.Asn382SerfsTer13) c.504_520dup (p.Asn174SerfsTer13) c.1317_1333dup (p.Asn445SerfsTer13) c.1221_1237dup (p.Asn413SerfsTer13) c.8370+124115_8370+124131dup (n.8370+124115_8370+124131dup) | |
2 | g.108897174G>A | CA427910842 | EDAR,RANBP2 | c.1080C>T (p.Leu360=) c.1176C>T (p.Leu392=) c.1227C>T (p.Leu409=) c.1131C>T (p.Leu377=) c.507C>T (p.Leu169=) c.1320C>T (p.Leu440=) c.1224C>T (p.Leu408=) c.8370+124128G>A (n.8370+124128G>A) | dbSNP gnomAD v4 |
2 | g.108897174G>C | CA427910843 | EDAR,RANBP2 | c.1080C>G (p.Leu360=) c.1176C>G (p.Leu392=) c.1227C>G (p.Leu409=) c.1131C>G (p.Leu377=) c.507C>G (p.Leu169=) c.1320C>G (p.Leu440=) c.1224C>G (p.Leu408=) c.8370+124128G>C (n.8370+124128G>C) | |
2 | g.108897174G= | CA1278354312 | EDAR,RANBP2 | c.1080C= (p.Leu360=) c.1176C= (p.Leu392=) c.1227C= (p.Leu409=) c.1131C= (p.Leu377=) c.507C= (p.Leu169=) c.1320C= (p.Leu440=) c.1224C= (p.Leu408=) c.8370+124128G= (n.8370+124128G=) | |
2 | g.108897174G>T | CA427910844 | EDAR,RANBP2 | c.1080C>A (p.Leu360=) c.1176C>A (p.Leu392=) c.1227C>A (p.Leu409=) c.1131C>A (p.Leu377=) c.507C>A (p.Leu169=) c.1320C>A (p.Leu440=) c.1224C>A (p.Leu408=) c.8370+124128G>T (n.8370+124128G>T) | |
2 | g.108897175A>C | CA348048325 | EDAR,RANBP2 | c.1079T>G (p.Leu360Arg) c.1175T>G (p.Leu392Arg) c.1226T>G (p.Leu409Arg) c.1130T>G (p.Leu377Arg) c.506T>G (p.Leu169Arg) c.1319T>G (p.Leu440Arg) c.1223T>G (p.Leu408Arg) c.8370+124129A>C (n.8370+124129A>C) | |
2 | g.108897175A>G | CA348048327 | EDAR,RANBP2 | c.1079T>C (p.Leu360Pro) c.1175T>C (p.Leu392Pro) c.1226T>C (p.Leu409Pro) c.1130T>C (p.Leu377Pro) c.506T>C (p.Leu169Pro) c.1319T>C (p.Leu440Pro) c.1223T>C (p.Leu408Pro) c.8370+124129A>G (n.8370+124129A>G) | |
2 | g.108897175A>T | CA348048330 | EDAR,RANBP2 | c.1079T>A (p.Leu360His) c.1175T>A (p.Leu392His) c.1226T>A (p.Leu409His) c.1130T>A (p.Leu377His) c.506T>A (p.Leu169His) c.1319T>A (p.Leu440His) c.1223T>A (p.Leu408His) c.8370+124129A>T (n.8370+124129A>T) | |
2 | g.108897176G>A | CA348048332 | EDAR,RANBP2 | c.1078C>T (p.Leu360Phe) c.1174C>T (p.Leu392Phe) c.1225C>T (p.Leu409Phe) c.1129C>T (p.Leu377Phe) c.505C>T (p.Leu169Phe) c.1318C>T (p.Leu440Phe) c.1222C>T (p.Leu408Phe) c.8370+124130G>A (n.8370+124130G>A) | |
2 | g.108897176G>C | CA348048335 | EDAR,RANBP2 | c.1078C>G (p.Leu360Val) c.1174C>G (p.Leu392Val) c.1225C>G (p.Leu409Val) c.1129C>G (p.Leu377Val) c.505C>G (p.Leu169Val) c.1318C>G (p.Leu440Val) c.1222C>G (p.Leu408Val) c.8370+124130G>C (n.8370+124130G>C) | gnomAD v4 |
2 | g.108897176G>T | CA348048338 | EDAR,RANBP2 | c.1078C>A (p.Leu360Ile) c.1174C>A (p.Leu392Ile) c.1225C>A (p.Leu409Ile) c.1129C>A (p.Leu377Ile) c.505C>A (p.Leu169Ile) c.1318C>A (p.Leu440Ile) c.1222C>A (p.Leu408Ile) c.8370+124130G>T (n.8370+124130G>T) | COSMIC COSMIC |
2 | g.108897177C>A | CA348048344 | EDAR,RANBP2 | c.1077G>T (p.Met359Ile) c.1173G>T (p.Met391Ile) c.1224G>T (p.Met408Ile) c.1128G>T (p.Met376Ile) c.504G>T (p.Met168Ile) c.1317G>T (p.Met439Ile) c.1221G>T (p.Met407Ile) c.8370+124131C>A (n.8370+124131C>A) | gnomAD v4 |
2 | g.108897177C>G | CA348048346 | EDAR,RANBP2 | c.1077G>C (p.Met359Ile) c.1173G>C (p.Met391Ile) c.1224G>C (p.Met408Ile) c.1128G>C (p.Met376Ile) c.504G>C (p.Met168Ile) c.1317G>C (p.Met439Ile) c.1221G>C (p.Met407Ile) c.8370+124131C>G (n.8370+124131C>G) | |
2 | g.108897177C>T | CA348048342 | EDAR,RANBP2 | c.1077G>A (p.Met359Ile) c.1173G>A (p.Met391Ile) c.1224G>A (p.Met408Ile) c.1128G>A (p.Met376Ile) c.504G>A (p.Met168Ile) c.1317G>A (p.Met439Ile) c.1221G>A (p.Met407Ile) c.8370+124131C>T (n.8370+124131C>T) | |
2 | g.108897178A>C | CA348048356 | EDAR,RANBP2 | c.1076T>G (p.Met359Arg) c.1172T>G (p.Met391Arg) c.1223T>G (p.Met408Arg) c.1127T>G (p.Met376Arg) c.503T>G (p.Met168Arg) c.1316T>G (p.Met439Arg) c.1220T>G (p.Met407Arg) c.8370+124132A>C (n.8370+124132A>C) | |
2 | g.108897178A>G | CA348048352 | EDAR,RANBP2 | c.1076T>C (p.Met359Thr) c.1172T>C (p.Met391Thr) c.1223T>C (p.Met408Thr) c.1127T>C (p.Met376Thr) c.503T>C (p.Met168Thr) c.1316T>C (p.Met439Thr) c.1220T>C (p.Met407Thr) c.8370+124132A>G (n.8370+124132A>G) | |
2 | g.108897178A>T | CA348048353 | EDAR,RANBP2 | c.1076T>A (p.Met359Lys) c.1172T>A (p.Met391Lys) c.1223T>A (p.Met408Lys) c.1127T>A (p.Met376Lys) c.503T>A (p.Met168Lys) c.1316T>A (p.Met439Lys) c.1220T>A (p.Met407Lys) c.8370+124132A>T (n.8370+124132A>T) | |
2 | g.108897179T>A | CA348048359 | EDAR,RANBP2 | c.1075A>T (p.Met359Leu) c.1171A>T (p.Met391Leu) c.1222A>T (p.Met408Leu) c.1126A>T (p.Met376Leu) c.502A>T (p.Met168Leu) c.1315A>T (p.Met439Leu) c.1219A>T (p.Met407Leu) c.8370+124133T>A (n.8370+124133T>A) | |
2 | g.108897179T>C | CA348048361 | EDAR,RANBP2 | c.1075A>G (p.Met359Val) c.1171A>G (p.Met391Val) c.1222A>G (p.Met408Val) c.1126A>G (p.Met376Val) c.502A>G (p.Met168Val) c.1315A>G (p.Met439Val) c.1219A>G (p.Met407Val) c.8370+124133T>C (n.8370+124133T>C) | |
2 | g.108897179T>G | CA348048362 | EDAR,RANBP2 | c.1075A>C (p.Met359Leu) c.1171A>C (p.Met391Leu) c.1222A>C (p.Met408Leu) c.1126A>C (p.Met376Leu) c.502A>C (p.Met168Leu) c.1315A>C (p.Met439Leu) c.1219A>C (p.Met407Leu) c.8370+124133T>G (n.8370+124133T>G) | |
2 | g.108897180T>A | CA427910850 | EDAR,RANBP2 | c.1074A>T (p.Arg358=) c.1170A>T (p.Arg390=) c.1221A>T (p.Arg407=) c.1125A>T (p.Arg375=) c.501A>T (p.Arg167=) c.1314A>T (p.Arg438=) c.1218A>T (p.Arg406=) c.8370+124134T>A (n.8370+124134T>A) | dbSNP |
2 | g.108897180T>C | CA427910851 | EDAR,RANBP2 | c.1074A>G (p.Arg358=) c.1170A>G (p.Arg390=) c.1221A>G (p.Arg407=) c.1125A>G (p.Arg375=) c.501A>G (p.Arg167=) c.1314A>G (p.Arg438=) c.1218A>G (p.Arg406=) c.8370+124134T>C (n.8370+124134T>C) | |
2 | g.108897180T>G | CA427910853 | EDAR,RANBP2 | c.1074A>C (p.Arg358=) c.1170A>C (p.Arg390=) c.1221A>C (p.Arg407=) c.1125A>C (p.Arg375=) c.501A>C (p.Arg167=) c.1314A>C (p.Arg438=) c.1218A>C (p.Arg406=) c.8370+124134T>G (n.8370+124134T>G) | |
2 | g.108897180T= | CA1278354313 | EDAR,RANBP2 | c.1074A= (p.Arg358=) c.1170A= (p.Arg390=) c.1221A= (p.Arg407=) c.1125A= (p.Arg375=) c.501A= (p.Arg167=) c.1314A= (p.Arg438=) c.1218A= (p.Arg406=) c.8370+124134T= (n.8370+124134T=) | |
2 | g.108897181C>A | CA348048365 | EDAR,RANBP2 | c.1073G>T (p.Arg358Leu) c.1169G>T (p.Arg390Leu) c.1220G>T (p.Arg407Leu) c.1124G>T (p.Arg375Leu) c.500G>T (p.Arg167Leu) c.1313G>T (p.Arg438Leu) c.1217G>T (p.Arg406Leu) c.8370+124135C>A (n.8370+124135C>A) | |
2 | g.108897181C= | CA1278354314 | EDAR,RANBP2 | c.1073G= (p.Arg358=) c.1169G= (p.Arg390=) c.1220G= (p.Arg407=) c.1124G= (p.Arg375=) c.500G= (p.Arg167=) c.1313G= (p.Arg438=) c.1217G= (p.Arg406=) c.8370+124135C= (n.8370+124135C=) | |
2 | g.108897181C>G | CA348048366 | EDAR,RANBP2 | c.1073G>C (p.Arg358Pro) c.1169G>C (p.Arg390Pro) c.1220G>C (p.Arg407Pro) c.1124G>C (p.Arg375Pro) c.500G>C (p.Arg167Pro) c.1313G>C (p.Arg438Pro) c.1217G>C (p.Arg406Pro) c.8370+124135C>G (n.8370+124135C>G) | |
2 | g.108897181C>T | CA10588307 | EDAR,RANBP2 | c.1073G>A (p.Arg358Gln) c.1169G>A (p.Arg390Gln) c.1220G>A (p.Arg407Gln) c.1124G>A (p.Arg375Gln) c.500G>A (p.Arg167Gln) c.1313G>A (p.Arg438Gln) c.1217G>A (p.Arg406Gln) c.8370+124135C>T (n.8370+124135C>T) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.108897182G>A | CA117808 | EDAR,RANBP2 | c.1072C>T (p.Arg358Ter) c.1168C>T (p.Arg390Ter) c.1219C>T (p.Arg407Ter) c.1123C>T (p.Arg375Ter) c.499C>T (p.Arg167Ter) c.1312C>T (p.Arg438Ter) c.1216C>T (p.Arg406Ter) c.8370+124136G>A (n.8370+124136G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.108897182G>C | CA348048372 | EDAR,RANBP2 | c.1072C>G (p.Arg358Gly) c.1168C>G (p.Arg390Gly) c.1219C>G (p.Arg407Gly) c.1123C>G (p.Arg375Gly) c.499C>G (p.Arg167Gly) c.1312C>G (p.Arg438Gly) c.1216C>G (p.Arg406Gly) c.8370+124136G>C (n.8370+124136G>C) | |
2 | g.108897182G= | CA1278354315 | EDAR,RANBP2 | c.1072C= (p.Arg358=) c.1168C= (p.Arg390=) c.1219C= (p.Arg407=) c.1123C= (p.Arg375=) c.499C= (p.Arg167=) c.1312C= (p.Arg438=) c.1216C= (p.Arg406=) c.8370+124136G= (n.8370+124136G=) | |
2 | g.108897182G>T | CA427910856 | EDAR,RANBP2 | c.1072C>A (p.Arg358=) c.1168C>A (p.Arg390=) c.1219C>A (p.Arg407=) c.1123C>A (p.Arg375=) c.499C>A (p.Arg167=) c.1312C>A (p.Arg438=) c.1216C>A (p.Arg406=) c.8370+124136G>T (n.8370+124136G>T) | |
2 | g.108897183G>A | CA427910857 | EDAR,RANBP2 | c.1071C>T (p.Ser357=) c.1167C>T (p.Ser389=) c.1218C>T (p.Ser406=) c.1122C>T (p.Ser374=) c.498C>T (p.Ser166=) c.1311C>T (p.Ser437=) c.1215C>T (p.Ser405=) c.8370+124137G>A (n.8370+124137G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.108897183G>C | CA348048374 | EDAR,RANBP2 | c.1071C>G (p.Ser357Arg) c.1167C>G (p.Ser389Arg) c.1218C>G (p.Ser406Arg) c.1122C>G (p.Ser374Arg) c.498C>G (p.Ser166Arg) c.1311C>G (p.Ser437Arg) c.1215C>G (p.Ser405Arg) c.8370+124137G>C (n.8370+124137G>C) | |
2 | g.108897183G= | CA1278354316 | EDAR,RANBP2 | c.1071C= (p.Ser357=) c.1167C= (p.Ser389=) c.1218C= (p.Ser406=) c.1122C= (p.Ser374=) c.498C= (p.Ser166=) c.1311C= (p.Ser437=) c.1215C= (p.Ser405=) c.8370+124137G= (n.8370+124137G=) | |
2 | g.108897183G>T | CA348048376 | EDAR,RANBP2 | c.1071C>A (p.Ser357Arg) c.1167C>A (p.Ser389Arg) c.1218C>A (p.Ser406Arg) c.1122C>A (p.Ser374Arg) c.498C>A (p.Ser166Arg) c.1311C>A (p.Ser437Arg) c.1215C>A (p.Ser405Arg) c.8370+124137G>T (n.8370+124137G>T) | gnomAD v4 |
2 | g.108897184C>A | CA348048380 | EDAR,RANBP2 | c.1070G>T (p.Ser357Ile) c.1166G>T (p.Ser389Ile) c.1217G>T (p.Ser406Ile) c.1121G>T (p.Ser374Ile) c.497G>T (p.Ser166Ile) c.1310G>T (p.Ser437Ile) c.1214G>T (p.Ser405Ile) c.8370+124138C>A (n.8370+124138C>A) | |
2 | g.108897184C>G | CA348048383 | EDAR,RANBP2 | c.1070G>C (p.Ser357Thr) c.1166G>C (p.Ser389Thr) c.1217G>C (p.Ser406Thr) c.1121G>C (p.Ser374Thr) c.497G>C (p.Ser166Thr) c.1310G>C (p.Ser437Thr) c.1214G>C (p.Ser405Thr) c.8370+124138C>G (n.8370+124138C>G) | |
2 | g.108897184C>T | CA348048385 | EDAR,RANBP2 | c.1070G>A (p.Ser357Asn) c.1166G>A (p.Ser389Asn) c.1217G>A (p.Ser406Asn) c.1121G>A (p.Ser374Asn) c.497G>A (p.Ser166Asn) c.1310G>A (p.Ser437Asn) c.1214G>A (p.Ser405Asn) c.8370+124138C>T (n.8370+124138C>T) | |
2 | g.108897185T>A | CA348048389 | EDAR,RANBP2 | c.1069A>T (p.Ser357Cys) c.1165A>T (p.Ser389Cys) c.1216A>T (p.Ser406Cys) c.1120A>T (p.Ser374Cys) c.496A>T (p.Ser166Cys) c.1309A>T (p.Ser437Cys) c.1213A>T (p.Ser405Cys) c.8370+124139T>A (n.8370+124139T>A) | |
2 | g.108897185T>C | CA348048393 | EDAR,RANBP2 | c.1069A>G (p.Ser357Gly) c.1165A>G (p.Ser389Gly) c.1216A>G (p.Ser406Gly) c.1120A>G (p.Ser374Gly) c.496A>G (p.Ser166Gly) c.1309A>G (p.Ser437Gly) c.1213A>G (p.Ser405Gly) c.8370+124139T>C (n.8370+124139T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897185T>G | CA348048391 | EDAR,RANBP2 | c.1069A>C (p.Ser357Arg) c.1165A>C (p.Ser389Arg) c.1216A>C (p.Ser406Arg) c.1120A>C (p.Ser374Arg) c.496A>C (p.Ser166Arg) c.1309A>C (p.Ser437Arg) c.1213A>C (p.Ser405Arg) c.8370+124139T>G (n.8370+124139T>G) | |
2 | g.108897185T= | CA1278354317 | EDAR,RANBP2 | c.1069A= (p.Ser357=) c.1165A= (p.Ser389=) c.1216A= (p.Ser406=) c.1120A= (p.Ser374=) c.496A= (p.Ser166=) c.1309A= (p.Ser437=) c.1213A= (p.Ser405=) c.8370+124139T= (n.8370+124139T=) | |
2 | g.108897186A= | CA1278354318 | EDAR,RANBP2 | c.1068T= (p.Thr356=) c.1164T= (p.Thr388=) c.1215T= (p.Thr405=) c.1119T= (p.Thr373=) c.495T= (p.Thr165=) c.1308T= (p.Thr436=) c.1212T= (p.Thr404=) c.8370+124140A= (n.8370+124140A=) | |
2 | g.108897186A>C | CA427910861 | EDAR,RANBP2 | c.1068T>G (p.Thr356=) c.1164T>G (p.Thr388=) c.1215T>G (p.Thr405=) c.1119T>G (p.Thr373=) c.495T>G (p.Thr165=) c.1308T>G (p.Thr436=) c.1212T>G (p.Thr404=) c.8370+124140A>C (n.8370+124140A>C) | |
2 | g.108897186A>G | CA53464911 | EDAR,RANBP2 | c.1068T>C (p.Thr356=) c.1164T>C (p.Thr388=) c.1215T>C (p.Thr405=) c.1119T>C (p.Thr373=) c.495T>C (p.Thr165=) c.1308T>C (p.Thr436=) c.1212T>C (p.Thr404=) c.8370+124140A>G (n.8370+124140A>G) | dbSNP gnomAD v4 |
2 | g.108897186A>T | CA427910862 | EDAR,RANBP2 | c.1068T>A (p.Thr356=) c.1164T>A (p.Thr388=) c.1215T>A (p.Thr405=) c.1119T>A (p.Thr373=) c.495T>A (p.Thr165=) c.1308T>A (p.Thr436=) c.1212T>A (p.Thr404=) c.8370+124140A>T (n.8370+124140A>T) | gnomAD v4 |
2 | g.108897187G>A | CA348048395 | EDAR,RANBP2 | c.1067C>T (p.Thr356Ile) c.1163C>T (p.Thr388Ile) c.1214C>T (p.Thr405Ile) c.1118C>T (p.Thr373Ile) c.494C>T (p.Thr165Ile) c.1307C>T (p.Thr436Ile) c.1211C>T (p.Thr404Ile) c.8370+124141G>A (n.8370+124141G>A) | |
2 | g.108897187G>C | CA348048397 | EDAR,RANBP2 | c.1067C>G (p.Thr356Ser) c.1163C>G (p.Thr388Ser) c.1214C>G (p.Thr405Ser) c.1118C>G (p.Thr373Ser) c.494C>G (p.Thr165Ser) c.1307C>G (p.Thr436Ser) c.1211C>G (p.Thr404Ser) c.8370+124141G>C (n.8370+124141G>C) | |
2 | g.108897187G>T | CA348048399 | EDAR,RANBP2 | c.1067C>A (p.Thr356Asn) c.1163C>A (p.Thr388Asn) c.1214C>A (p.Thr405Asn) c.1118C>A (p.Thr373Asn) c.494C>A (p.Thr165Asn) c.1307C>A (p.Thr436Asn) c.1211C>A (p.Thr404Asn) c.8370+124141G>T (n.8370+124141G>T) | |
2 | g.108897187_108897190delinsGTCT | CA1278354319 | EDAR,RANBP2 | c.1064_1067delinsAGAC (p.Lys355=) c.1160_1163delinsAGAC (p.Lys387=) c.1211_1214delinsAGAC (p.Lys404=) c.1115_1118delinsAGAC (p.Lys372=) c.491_494delinsAGAC (p.Lys164=) c.1304_1307delinsAGAC (p.Lys435=) c.1208_1211delinsAGAC (p.Lys403=) c.8370+124141_8370+124144delinsGTCT (n.8370+124141_8370+124144delinsGTCT) | |
2 | g.108897188T>A | CA348048400 | EDAR,RANBP2 | c.1066A>T (p.Thr356Ser) c.1162A>T (p.Thr388Ser) c.1213A>T (p.Thr405Ser) c.1117A>T (p.Thr373Ser) c.493A>T (p.Thr165Ser) c.1306A>T (p.Thr436Ser) c.1210A>T (p.Thr404Ser) c.8370+124142T>A (n.8370+124142T>A) | |
2 | g.108897188T>C | CA348048402 | EDAR,RANBP2 | c.1066A>G (p.Thr356Ala) c.1162A>G (p.Thr388Ala) c.1213A>G (p.Thr405Ala) c.1117A>G (p.Thr373Ala) c.493A>G (p.Thr165Ala) c.1306A>G (p.Thr436Ala) c.1210A>G (p.Thr404Ala) c.8370+124142T>C (n.8370+124142T>C) | |
2 | g.108897188T>G | CA348048403 | EDAR,RANBP2 | c.1066A>C (p.Thr356Pro) c.1162A>C (p.Thr388Pro) c.1213A>C (p.Thr405Pro) c.1117A>C (p.Thr373Pro) c.493A>C (p.Thr165Pro) c.1306A>C (p.Thr436Pro) c.1210A>C (p.Thr404Pro) c.8370+124142T>G (n.8370+124142T>G) | |
2 | g.108897191_108897193del | CA915944093 | EDAR,RANBP2 | c.1064_1066del (p.Lys355del) c.1160_1162del (p.Lys387del) c.1211_1213del (p.Lys404del) c.1115_1117del (p.Lys372del) c.491_493del (p.Lys164del) c.1304_1306del (p.Lys435del) c.1208_1210del (p.Lys403del) c.8370+124145_8370+124147del (n.8370+124145_8370+124147del) | ClinVar dbSNP |
2 | g.108897189C>A | CA348048406 | EDAR,RANBP2 | c.1065G>T (p.Lys355Asn) c.1161G>T (p.Lys387Asn) c.1212G>T (p.Lys404Asn) c.1116G>T (p.Lys372Asn) c.492G>T (p.Lys164Asn) c.1305G>T (p.Lys435Asn) c.1209G>T (p.Lys403Asn) c.8370+124143C>A (n.8370+124143C>A) | |
2 | g.108897189C>G | CA348048409 | EDAR,RANBP2 | c.1065G>C (p.Lys355Asn) c.1161G>C (p.Lys387Asn) c.1212G>C (p.Lys404Asn) c.1116G>C (p.Lys372Asn) c.492G>C (p.Lys164Asn) c.1305G>C (p.Lys435Asn) c.1209G>C (p.Lys403Asn) c.8370+124143C>G (n.8370+124143C>G) | |
2 | g.108897189C>T | CA427910865 | EDAR,RANBP2 | c.1065G>A (p.Lys355=) c.1161G>A (p.Lys387=) c.1212G>A (p.Lys404=) c.1116G>A (p.Lys372=) c.492G>A (p.Lys164=) c.1305G>A (p.Lys435=) c.1209G>A (p.Lys403=) c.8370+124143C>T (n.8370+124143C>T) | gnomAD v4 |
2 | g.108897190T>A | CA348048411 | EDAR,RANBP2 | c.1064A>T (p.Lys355Met) c.1160A>T (p.Lys387Met) c.1211A>T (p.Lys404Met) c.1115A>T (p.Lys372Met) c.491A>T (p.Lys164Met) c.1304A>T (p.Lys435Met) c.1208A>T (p.Lys403Met) c.8370+124144T>A (n.8370+124144T>A) | |
2 | g.108897190T>C | CA1824823 | EDAR,RANBP2 | c.1064A>G (p.Lys355Arg) c.1160A>G (p.Lys387Arg) c.1211A>G (p.Lys404Arg) c.1115A>G (p.Lys372Arg) c.491A>G (p.Lys164Arg) c.1304A>G (p.Lys435Arg) c.1208A>G (p.Lys403Arg) c.8370+124144T>C (n.8370+124144T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108897190T>G | CA348048414 | EDAR,RANBP2 | c.1064A>C (p.Lys355Thr) c.1160A>C (p.Lys387Thr) c.1211A>C (p.Lys404Thr) c.1115A>C (p.Lys372Thr) c.491A>C (p.Lys164Thr) c.1304A>C (p.Lys435Thr) c.1208A>C (p.Lys403Thr) c.8370+124144T>G (n.8370+124144T>G) | |
2 | g.108897190T= | CA1278354320 | EDAR,RANBP2 | c.1064A= (p.Lys355=) c.1160A= (p.Lys387=) c.1211A= (p.Lys404=) c.1115A= (p.Lys372=) c.491A= (p.Lys164=) c.1304A= (p.Lys435=) c.1208A= (p.Lys403=) c.8370+124144T= (n.8370+124144T=) | |
2 | g.108897191T>A | CA348048418 | EDAR,RANBP2 | c.1063A>T (p.Lys355Ter) c.1159A>T (p.Lys387Ter) c.1210A>T (p.Lys404Ter) c.1114A>T (p.Lys372Ter) c.490A>T (p.Lys164Ter) c.1303A>T (p.Lys435Ter) c.1207A>T (p.Lys403Ter) c.8370+124145T>A (n.8370+124145T>A) | |
2 | g.108897191T>C | CA348048421 | EDAR,RANBP2 | c.1063A>G (p.Lys355Glu) c.1159A>G (p.Lys387Glu) c.1210A>G (p.Lys404Glu) c.1114A>G (p.Lys372Glu) c.490A>G (p.Lys164Glu) c.1303A>G (p.Lys435Glu) c.1207A>G (p.Lys403Glu) c.8370+124145T>C (n.8370+124145T>C) | |
2 | g.108897191T>G | CA348048419 | EDAR,RANBP2 | c.1063A>C (p.Lys355Gln) c.1159A>C (p.Lys387Gln) c.1210A>C (p.Lys404Gln) c.1114A>C (p.Lys372Gln) c.490A>C (p.Lys164Gln) c.1303A>C (p.Lys435Gln) c.1207A>C (p.Lys403Gln) c.8370+124145T>G (n.8370+124145T>G) | |
2 | g.108897192C>A | CA1824824 | EDAR,RANBP2 | c.1062G>T (p.Glu354Asp) c.1158G>T (p.Glu386Asp) c.1209G>T (p.Glu403Asp) c.1113G>T (p.Glu371Asp) c.489G>T (p.Glu163Asp) c.1302G>T (p.Glu434Asp) c.1206G>T (p.Glu402Asp) c.8370+124146C>A (n.8370+124146C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897192C= | CA1278354321 | EDAR,RANBP2 | c.1062G= (p.Glu354=) c.1158G= (p.Glu386=) c.1209G= (p.Glu403=) c.1113G= (p.Glu371=) c.489G= (p.Glu163=) c.1302G= (p.Glu434=) c.1206G= (p.Glu402=) c.8370+124146C= (n.8370+124146C=) | |
2 | g.108897192C>G | CA348048434 | EDAR,RANBP2 | c.1062G>C (p.Glu354Asp) c.1158G>C (p.Glu386Asp) c.1209G>C (p.Glu403Asp) c.1113G>C (p.Glu371Asp) c.489G>C (p.Glu163Asp) c.1302G>C (p.Glu434Asp) c.1206G>C (p.Glu402Asp) c.8370+124146C>G (n.8370+124146C>G) | |
2 | g.108897192C>T | CA427910870 | EDAR,RANBP2 | c.1062G>A (p.Glu354=) c.1158G>A (p.Glu386=) c.1209G>A (p.Glu403=) c.1113G>A (p.Glu371=) c.489G>A (p.Glu163=) c.1302G>A (p.Glu434=) c.1206G>A (p.Glu402=) c.8370+124146C>T (n.8370+124146C>T) | |
2 | g.108897193T>A | CA348048436 | EDAR,RANBP2 | c.1061A>T (p.Glu354Val) c.1157A>T (p.Glu386Val) c.1208A>T (p.Glu403Val) c.1112A>T (p.Glu371Val) c.488A>T (p.Glu163Val) c.1301A>T (p.Glu434Val) c.1205A>T (p.Glu402Val) c.8370+124147T>A (n.8370+124147T>A) | |
2 | g.108897193T>C | CA348048439 | EDAR,RANBP2 | c.1061A>G (p.Glu354Gly) c.1157A>G (p.Glu386Gly) c.1208A>G (p.Glu403Gly) c.1112A>G (p.Glu371Gly) c.488A>G (p.Glu163Gly) c.1301A>G (p.Glu434Gly) c.1205A>G (p.Glu402Gly) c.8370+124147T>C (n.8370+124147T>C) | |
2 | g.108897193T>G | CA348048442 | EDAR,RANBP2 | c.1061A>C (p.Glu354Ala) c.1157A>C (p.Glu386Ala) c.1208A>C (p.Glu403Ala) c.1112A>C (p.Glu371Ala) c.488A>C (p.Glu163Ala) c.1301A>C (p.Glu434Ala) c.1205A>C (p.Glu402Ala) c.8370+124147T>G (n.8370+124147T>G) | |
2 | g.108897194C>A | CA117811 | EDAR,RANBP2 | c.1060G>T (p.Glu354Ter) c.1156G>T (p.Glu386Ter) c.1207G>T (p.Glu403Ter) c.1111G>T (p.Glu371Ter) c.487G>T (p.Glu163Ter) c.1300G>T (p.Glu434Ter) c.1204G>T (p.Glu402Ter) c.8370+124148C>A (n.8370+124148C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.108897194C= | CA1278354322 | EDAR,RANBP2 | c.1060G= (p.Glu354=) c.1156G= (p.Glu386=) c.1207G= (p.Glu403=) c.1111G= (p.Glu371=) c.487G= (p.Glu163=) c.1300G= (p.Glu434=) c.1204G= (p.Glu402=) c.8370+124148C= (n.8370+124148C=) | |
2 | g.108897194C>G | CA348048446 | EDAR,RANBP2 | c.1060G>C (p.Glu354Gln) c.1156G>C (p.Glu386Gln) c.1207G>C (p.Glu403Gln) c.1111G>C (p.Glu371Gln) c.487G>C (p.Glu163Gln) c.1300G>C (p.Glu434Gln) c.1204G>C (p.Glu402Gln) c.8370+124148C>G (n.8370+124148C>G) | |
2 | g.108897194C>T | CA348048449 | EDAR,RANBP2 | c.1060G>A (p.Glu354Lys) c.1156G>A (p.Glu386Lys) c.1207G>A (p.Glu403Lys) c.1111G>A (p.Glu371Lys) c.487G>A (p.Glu163Lys) c.1300G>A (p.Glu434Lys) c.1204G>A (p.Glu402Lys) c.8370+124148C>T (n.8370+124148C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108897195G>A | CA1824825 | EDAR,RANBP2 | c.1059C>T (p.Leu353=) c.1155C>T (p.Leu385=) c.1206C>T (p.Leu402=) c.1110C>T (p.Leu370=) c.486C>T (p.Leu162=) c.1299C>T (p.Leu433=) c.1203C>T (p.Leu401=) c.8370+124149G>A (n.8370+124149G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897195G>C | CA427910877 | EDAR,RANBP2 | c.1059C>G (p.Leu353=) c.1155C>G (p.Leu385=) c.1206C>G (p.Leu402=) c.1110C>G (p.Leu370=) c.486C>G (p.Leu162=) c.1299C>G (p.Leu433=) c.1203C>G (p.Leu401=) c.8370+124149G>C (n.8370+124149G>C) | gnomAD v4 |
2 | g.108897195G= | CA1278354323 | EDAR,RANBP2 | c.1059C= (p.Leu353=) c.1155C= (p.Leu385=) c.1206C= (p.Leu402=) c.1110C= (p.Leu370=) c.486C= (p.Leu162=) c.1299C= (p.Leu433=) c.1203C= (p.Leu401=) c.8370+124149G= (n.8370+124149G=) | |
2 | g.108897195G>T | CA427910878 | EDAR,RANBP2 | c.1059C>A (p.Leu353=) c.1155C>A (p.Leu385=) c.1206C>A (p.Leu402=) c.1110C>A (p.Leu370=) c.486C>A (p.Leu162=) c.1299C>A (p.Leu433=) c.1203C>A (p.Leu401=) c.8370+124149G>T (n.8370+124149G>T) | gnomAD v4 |
2 | g.108897196A>C | CA348048454 | EDAR,RANBP2 | c.1058T>G (p.Leu353Arg) c.1154T>G (p.Leu385Arg) c.1205T>G (p.Leu402Arg) c.1109T>G (p.Leu370Arg) c.485T>G (p.Leu162Arg) c.1298T>G (p.Leu433Arg) c.1202T>G (p.Leu401Arg) c.8370+124150A>C (n.8370+124150A>C) | |
2 | g.108897196A>G | CA348048457 | EDAR,RANBP2 | c.1058T>C (p.Leu353Pro) c.1154T>C (p.Leu385Pro) c.1205T>C (p.Leu402Pro) c.1109T>C (p.Leu370Pro) c.485T>C (p.Leu162Pro) c.1298T>C (p.Leu433Pro) c.1202T>C (p.Leu401Pro) c.8370+124150A>G (n.8370+124150A>G) | |
2 | g.108897196A>T | CA348048459 | EDAR,RANBP2 | c.1058T>A (p.Leu353His) c.1154T>A (p.Leu385His) c.1205T>A (p.Leu402His) c.1109T>A (p.Leu370His) c.485T>A (p.Leu162His) c.1298T>A (p.Leu433His) c.1202T>A (p.Leu401His) c.8370+124150A>T (n.8370+124150A>T) | |
2 | g.108897197G>A | CA348048469 | EDAR,RANBP2 | c.1057C>T (p.Leu353Phe) c.1153C>T (p.Leu385Phe) c.1204C>T (p.Leu402Phe) c.1108C>T (p.Leu370Phe) c.484C>T (p.Leu162Phe) c.1297C>T (p.Leu433Phe) c.1201C>T (p.Leu401Phe) c.8370+124151G>A (n.8370+124151G>A) | ClinVar |
2 | g.108897197G>C | CA348048463 | EDAR,RANBP2 | c.1057C>G (p.Leu353Val) c.1153C>G (p.Leu385Val) c.1204C>G (p.Leu402Val) c.1108C>G (p.Leu370Val) c.484C>G (p.Leu162Val) c.1297C>G (p.Leu433Val) c.1201C>G (p.Leu401Val) c.8370+124151G>C (n.8370+124151G>C) | |
2 | g.108897197G>T | CA348048466 | EDAR,RANBP2 | c.1057C>A (p.Leu353Ile) c.1153C>A (p.Leu385Ile) c.1204C>A (p.Leu402Ile) c.1108C>A (p.Leu370Ile) c.484C>A (p.Leu162Ile) c.1297C>A (p.Leu433Ile) c.1201C>A (p.Leu401Ile) c.8370+124151G>T (n.8370+124151G>T) | |
2 | g.108897198G>A | CA210913 | EDAR,RANBP2 | c.1056C>T (p.Cys352=) c.1152C>T (p.Cys384=) c.1203C>T (p.Cys401=) c.1107C>T (p.Cys369=) c.483C>T (p.Cys161=) c.1296C>T (p.Cys432=) c.1200C>T (p.Cys400=) c.8370+124152G>A (n.8370+124152G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897198G>C | CA348048474 | EDAR,RANBP2 | c.1056C>G (p.Cys352Trp) c.1152C>G (p.Cys384Trp) c.1203C>G (p.Cys401Trp) c.1107C>G (p.Cys369Trp) c.483C>G (p.Cys161Trp) c.1296C>G (p.Cys432Trp) c.1200C>G (p.Cys400Trp) c.8370+124152G>C (n.8370+124152G>C) | dbSNP |
2 | g.108897198G= | CA1278354324 | EDAR,RANBP2 | c.1056C= (p.Cys352=) c.1152C= (p.Cys384=) c.1203C= (p.Cys401=) c.1107C= (p.Cys369=) c.483C= (p.Cys161=) c.1296C= (p.Cys432=) c.1200C= (p.Cys400=) c.8370+124152G= (n.8370+124152G=) | |
2 | g.108897198G>T | CA348048477 | EDAR,RANBP2 | c.1056C>A (p.Cys352Ter) c.1152C>A (p.Cys384Ter) c.1203C>A (p.Cys401Ter) c.1107C>A (p.Cys369Ter) c.483C>A (p.Cys161Ter) c.1296C>A (p.Cys432Ter) c.1200C>A (p.Cys400Ter) c.8370+124152G>T (n.8370+124152G>T) | dbSNP gnomAD v4 |
2 | g.108897199C>A | CA348048479 | EDAR,RANBP2 | c.1055G>T (p.Cys352Phe) c.1151G>T (p.Cys384Phe) c.1202G>T (p.Cys401Phe) c.1106G>T (p.Cys369Phe) c.482G>T (p.Cys161Phe) c.1295G>T (p.Cys432Phe) c.1199G>T (p.Cys400Phe) c.8370+124153C>A (n.8370+124153C>A) | |
2 | g.108897199C>G | CA348048480 | EDAR,RANBP2 | c.1055G>C (p.Cys352Ser) c.1151G>C (p.Cys384Ser) c.1202G>C (p.Cys401Ser) c.1106G>C (p.Cys369Ser) c.482G>C (p.Cys161Ser) c.1295G>C (p.Cys432Ser) c.1199G>C (p.Cys400Ser) c.8370+124153C>G (n.8370+124153C>G) | |
2 | g.108897199C>T | CA348048481 | EDAR,RANBP2 | c.1055G>A (p.Cys352Tyr) c.1151G>A (p.Cys384Tyr) c.1202G>A (p.Cys401Tyr) c.1106G>A (p.Cys369Tyr) c.482G>A (p.Cys161Tyr) c.1295G>A (p.Cys432Tyr) c.1199G>A (p.Cys400Tyr) c.8370+124153C>T (n.8370+124153C>T) | |
2 | g.108897202_108897205del | CA2586969743 | EDAR,RANBP2 | c.1052_1055del (p.Asp351AlafsTer20) c.1148_1151del (p.Asp383AlafsTer20) c.1199_1202del (p.Asp400AlafsTer20) c.1103_1106del (p.Asp368AlafsTer20) c.479_482del (p.Asp160AlafsTer20) c.1292_1295del (p.Asp431AlafsTer20) c.1196_1199del (p.Asp399AlafsTer20) c.8370+124156_8370+124159del (n.8370+124156_8370+124159del) | |
2 | g.108897200A>C | CA348048482 | EDAR,RANBP2 | c.1054T>G (p.Cys352Gly) c.1150T>G (p.Cys384Gly) c.1201T>G (p.Cys401Gly) c.1105T>G (p.Cys369Gly) c.481T>G (p.Cys161Gly) c.1294T>G (p.Cys432Gly) c.1198T>G (p.Cys400Gly) c.8370+124154A>C (n.8370+124154A>C) | |
2 | g.108897200A>G | CA348048483 | EDAR,RANBP2 | c.1054T>C (p.Cys352Arg) c.1150T>C (p.Cys384Arg) c.1201T>C (p.Cys401Arg) c.1105T>C (p.Cys369Arg) c.481T>C (p.Cys161Arg) c.1294T>C (p.Cys432Arg) c.1198T>C (p.Cys400Arg) c.8370+124154A>G (n.8370+124154A>G) | |
2 | g.108897200A>T | CA348048484 | EDAR,RANBP2 | c.1054T>A (p.Cys352Ser) c.1150T>A (p.Cys384Ser) c.1201T>A (p.Cys401Ser) c.1105T>A (p.Cys369Ser) c.481T>A (p.Cys161Ser) c.1294T>A (p.Cys432Ser) c.1198T>A (p.Cys400Ser) c.8370+124154A>T (n.8370+124154A>T) | |
2 | g.108897201A>C | CA348048485 | EDAR,RANBP2 | c.1053T>G (p.Asp351Glu) c.1149T>G (p.Asp383Glu) c.1200T>G (p.Asp400Glu) c.1104T>G (p.Asp368Glu) c.480T>G (p.Asp160Glu) c.1293T>G (p.Asp431Glu) c.1197T>G (p.Asp399Glu) c.8370+124155A>C (n.8370+124155A>C) | |
2 | g.108897201A>G | CA427910890 | EDAR,RANBP2 | c.1053T>C (p.Asp351=) c.1149T>C (p.Asp383=) c.1200T>C (p.Asp400=) c.1104T>C (p.Asp368=) c.480T>C (p.Asp160=) c.1293T>C (p.Asp431=) c.1197T>C (p.Asp399=) c.8370+124155A>G (n.8370+124155A>G) | |
2 | g.108897201A>T | CA348048486 | EDAR,RANBP2 | c.1053T>A (p.Asp351Glu) c.1149T>A (p.Asp383Glu) c.1200T>A (p.Asp400Glu) c.1104T>A (p.Asp368Glu) c.480T>A (p.Asp160Glu) c.1293T>A (p.Asp431Glu) c.1197T>A (p.Asp399Glu) c.8370+124155A>T (n.8370+124155A>T) | |
2 | g.108897202T>A | CA348048492 | EDAR,RANBP2 | c.1052A>T (p.Asp351Val) c.1148A>T (p.Asp383Val) c.1199A>T (p.Asp400Val) c.1103A>T (p.Asp368Val) c.479A>T (p.Asp160Val) c.1292A>T (p.Asp431Val) c.1196A>T (p.Asp399Val) c.8370+124156T>A (n.8370+124156T>A) | |
2 | g.108897202T>C | CA348048494 | EDAR,RANBP2 | c.1052A>G (p.Asp351Gly) c.1148A>G (p.Asp383Gly) c.1199A>G (p.Asp400Gly) c.1103A>G (p.Asp368Gly) c.479A>G (p.Asp160Gly) c.1292A>G (p.Asp431Gly) c.1196A>G (p.Asp399Gly) c.8370+124156T>C (n.8370+124156T>C) | |
2 | g.108897202T>G | CA348048488 | EDAR,RANBP2 | c.1052A>C (p.Asp351Ala) c.1148A>C (p.Asp383Ala) c.1199A>C (p.Asp400Ala) c.1103A>C (p.Asp368Ala) c.479A>C (p.Asp160Ala) c.1292A>C (p.Asp431Ala) c.1196A>C (p.Asp399Ala) c.8370+124156T>G (n.8370+124156T>G) | |
2 | g.108897203C>A | CA348048501 | EDAR,RANBP2 | c.1051G>T (p.Asp351Tyr) c.1147G>T (p.Asp383Tyr) c.1198G>T (p.Asp400Tyr) c.1102G>T (p.Asp368Tyr) c.478G>T (p.Asp160Tyr) c.1291G>T (p.Asp431Tyr) c.1195G>T (p.Asp399Tyr) c.8370+124157C>A (n.8370+124157C>A) | dbSNP gnomAD v4 |
2 | g.108897203C= | CA1278354325 | EDAR,RANBP2 | c.1051G= (p.Asp351=) c.1147G= (p.Asp383=) c.1198G= (p.Asp400=) c.1102G= (p.Asp368=) c.478G= (p.Asp160=) c.1291G= (p.Asp431=) c.1195G= (p.Asp399=) c.8370+124157C= (n.8370+124157C=) | |
2 | g.108897203C>G | CA348048496 | EDAR,RANBP2 | c.1051G>C (p.Asp351His) c.1147G>C (p.Asp383His) c.1198G>C (p.Asp400His) c.1102G>C (p.Asp368His) c.478G>C (p.Asp160His) c.1291G>C (p.Asp431His) c.1195G>C (p.Asp399His) c.8370+124157C>G (n.8370+124157C>G) | |
2 | g.108897203C>T | CA348048499 | EDAR,RANBP2 | c.1051G>A (p.Asp351Asn) c.1147G>A (p.Asp383Asn) c.1198G>A (p.Asp400Asn) c.1102G>A (p.Asp368Asn) c.478G>A (p.Asp160Asn) c.1291G>A (p.Asp431Asn) c.1195G>A (p.Asp399Asn) c.8370+124157C>T (n.8370+124157C>T) | |
2 | g.108897204A>C | CA348048503 | EDAR,RANBP2 | c.1050T>G (p.Phe350Leu) c.1146T>G (p.Phe382Leu) c.1197T>G (p.Phe399Leu) c.1101T>G (p.Phe367Leu) c.477T>G (p.Phe159Leu) c.1290T>G (p.Phe430Leu) c.1194T>G (p.Phe398Leu) c.8370+124158A>C (n.8370+124158A>C) | |
2 | g.108897204A>G | CA427910895 | EDAR,RANBP2 | c.1050T>C (p.Phe350=) c.1146T>C (p.Phe382=) c.1197T>C (p.Phe399=) c.1101T>C (p.Phe367=) c.477T>C (p.Phe159=) c.1290T>C (p.Phe430=) c.1194T>C (p.Phe398=) c.8370+124158A>G (n.8370+124158A>G) | |
2 | g.108897204A>T | CA348048505 | EDAR,RANBP2 | c.1050T>A (p.Phe350Leu) c.1146T>A (p.Phe382Leu) c.1197T>A (p.Phe399Leu) c.1101T>A (p.Phe367Leu) c.477T>A (p.Phe159Leu) c.1290T>A (p.Phe430Leu) c.1194T>A (p.Phe398Leu) c.8370+124158A>T (n.8370+124158A>T) | |
2 | g.108897205A>C | CA348048507 | EDAR,RANBP2 | c.1049T>G (p.Phe350Cys) c.1145T>G (p.Phe382Cys) c.1196T>G (p.Phe399Cys) c.1100T>G (p.Phe367Cys) c.476T>G (p.Phe159Cys) c.1289T>G (p.Phe430Cys) c.1193T>G (p.Phe398Cys) c.8370+124159A>C (n.8370+124159A>C) | |
2 | g.108897205A>G | CA348048510 | EDAR,RANBP2 | c.1049T>C (p.Phe350Ser) c.1145T>C (p.Phe382Ser) c.1196T>C (p.Phe399Ser) c.1100T>C (p.Phe367Ser) c.476T>C (p.Phe159Ser) c.1289T>C (p.Phe430Ser) c.1193T>C (p.Phe398Ser) c.8370+124159A>G (n.8370+124159A>G) | |
2 | g.108897205A>T | CA348048512 | EDAR,RANBP2 | c.1049T>A (p.Phe350Tyr) c.1145T>A (p.Phe382Tyr) c.1196T>A (p.Phe399Tyr) c.1100T>A (p.Phe367Tyr) c.476T>A (p.Phe159Tyr) c.1289T>A (p.Phe430Tyr) c.1193T>A (p.Phe398Tyr) c.8370+124159A>T (n.8370+124159A>T) | |
2 | g.108897206A>C | CA348048514 | EDAR,RANBP2 | c.1048T>G (p.Phe350Val) c.1144T>G (p.Phe382Val) c.1195T>G (p.Phe399Val) c.1099T>G (p.Phe367Val) c.475T>G (p.Phe159Val) c.1288T>G (p.Phe430Val) c.1192T>G (p.Phe398Val) c.8370+124160A>C (n.8370+124160A>C) | gnomAD v4 |
2 | g.108897206A>G | CA348048516 | EDAR,RANBP2 | c.1048T>C (p.Phe350Leu) c.1144T>C (p.Phe382Leu) c.1195T>C (p.Phe399Leu) c.1099T>C (p.Phe367Leu) c.475T>C (p.Phe159Leu) c.1288T>C (p.Phe430Leu) c.1192T>C (p.Phe398Leu) c.8370+124160A>G (n.8370+124160A>G) | |
2 | g.108897206A>T | CA348048518 | EDAR,RANBP2 | c.1048T>A (p.Phe350Ile) c.1144T>A (p.Phe382Ile) c.1195T>A (p.Phe399Ile) c.1099T>A (p.Phe367Ile) c.475T>A (p.Phe159Ile) c.1288T>A (p.Phe430Ile) c.1192T>A (p.Phe398Ile) c.8370+124160A>T (n.8370+124160A>T) | |
2 | g.108897207T>A | CA427910904 | EDAR,RANBP2 | c.1047A>T (p.Pro349=) c.1143A>T (p.Pro381=) c.1194A>T (p.Pro398=) c.1098A>T (p.Pro366=) c.474A>T (p.Pro158=) c.1287A>T (p.Pro429=) c.1191A>T (p.Pro397=) c.8370+124161T>A (n.8370+124161T>A) | |
2 | g.108897207T>C | CA1824826 | EDAR,RANBP2 | c.1047A>G (p.Pro349=) c.1143A>G (p.Pro381=) c.1194A>G (p.Pro398=) c.1098A>G (p.Pro366=) c.474A>G (p.Pro158=) c.1287A>G (p.Pro429=) c.1191A>G (p.Pro397=) c.8370+124161T>C (n.8370+124161T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897207T>G | CA427910906 | EDAR,RANBP2 | c.1047A>C (p.Pro349=) c.1143A>C (p.Pro381=) c.1194A>C (p.Pro398=) c.1098A>C (p.Pro366=) c.474A>C (p.Pro158=) c.1287A>C (p.Pro429=) c.1191A>C (p.Pro397=) c.8370+124161T>G (n.8370+124161T>G) | |
2 | g.108897207T= | CA1278354326 | EDAR,RANBP2 | c.1047A= (p.Pro349=) c.1143A= (p.Pro381=) c.1194A= (p.Pro398=) c.1098A= (p.Pro366=) c.474A= (p.Pro158=) c.1287A= (p.Pro429=) c.1191A= (p.Pro397=) c.8370+124161T= (n.8370+124161T=) | |
2 | g.108897208G>A | CA348048528 | EDAR,RANBP2 | c.1046C>T (p.Pro349Leu) c.1142C>T (p.Pro381Leu) c.1193C>T (p.Pro398Leu) c.1097C>T (p.Pro366Leu) c.473C>T (p.Pro158Leu) c.1286C>T (p.Pro429Leu) c.1190C>T (p.Pro397Leu) c.8370+124162G>A (n.8370+124162G>A) | COSMIC COSMIC |
2 | g.108897208G>C | CA348048526 | EDAR,RANBP2 | c.1046C>G (p.Pro349Arg) c.1142C>G (p.Pro381Arg) c.1193C>G (p.Pro398Arg) c.1097C>G (p.Pro366Arg) c.473C>G (p.Pro158Arg) c.1286C>G (p.Pro429Arg) c.1190C>G (p.Pro397Arg) c.8370+124162G>C (n.8370+124162G>C) | |
2 | g.108897208G>T | CA348048523 | EDAR,RANBP2 | c.1046C>A (p.Pro349Gln) c.1142C>A (p.Pro381Gln) c.1193C>A (p.Pro398Gln) c.1097C>A (p.Pro366Gln) c.473C>A (p.Pro158Gln) c.1286C>A (p.Pro429Gln) c.1190C>A (p.Pro397Gln) c.8370+124162G>T (n.8370+124162G>T) | gnomAD v4 |
2 | g.108897209G>A | CA348048532 | EDAR,RANBP2 | c.1045C>T (p.Pro349Ser) c.1141C>T (p.Pro381Ser) c.1192C>T (p.Pro398Ser) c.1096C>T (p.Pro366Ser) c.472C>T (p.Pro158Ser) c.1285C>T (p.Pro429Ser) c.1189C>T (p.Pro397Ser) c.8370+124163G>A (n.8370+124163G>A) | |
2 | g.108897209G>C | CA348048533 | EDAR,RANBP2 | c.1045C>G (p.Pro349Ala) c.1141C>G (p.Pro381Ala) c.1192C>G (p.Pro398Ala) c.1096C>G (p.Pro366Ala) c.472C>G (p.Pro158Ala) c.1285C>G (p.Pro429Ala) c.1189C>G (p.Pro397Ala) c.8370+124163G>C (n.8370+124163G>C) | |
2 | g.108897209G>T | CA348048536 | EDAR,RANBP2 | c.1045C>A (p.Pro349Thr) c.1141C>A (p.Pro381Thr) c.1192C>A (p.Pro398Thr) c.1096C>A (p.Pro366Thr) c.472C>A (p.Pro158Thr) c.1285C>A (p.Pro429Thr) c.1189C>A (p.Pro397Thr) c.8370+124163G>T (n.8370+124163G>T) | |
2 | g.108897210C>A | CA427910912 | EDAR,RANBP2 | c.1044G>T (p.Leu348=) c.1140G>T (p.Leu380=) c.1191G>T (p.Leu397=) c.1095G>T (p.Leu365=) c.471G>T (p.Leu157=) c.1284G>T (p.Leu428=) c.1188G>T (p.Leu396=) c.8370+124164C>A (n.8370+124164C>A) | |
2 | g.108897210C>G | CA427910913 | EDAR,RANBP2 | c.1044G>C (p.Leu348=) c.1140G>C (p.Leu380=) c.1191G>C (p.Leu397=) c.1095G>C (p.Leu365=) c.471G>C (p.Leu157=) c.1284G>C (p.Leu428=) c.1188G>C (p.Leu396=) c.8370+124164C>G (n.8370+124164C>G) | |
2 | g.108897210C>T | CA427910915 | EDAR,RANBP2 | c.1044G>A (p.Leu348=) c.1140G>A (p.Leu380=) c.1191G>A (p.Leu397=) c.1095G>A (p.Leu365=) c.471G>A (p.Leu157=) c.1284G>A (p.Leu428=) c.1188G>A (p.Leu396=) c.8370+124164C>T (n.8370+124164C>T) | gnomAD v4 |
2 | g.108897211A>C | CA348048539 | EDAR,RANBP2 | c.1043T>G (p.Leu348Arg) c.1139T>G (p.Leu380Arg) c.1190T>G (p.Leu397Arg) c.1094T>G (p.Leu365Arg) c.470T>G (p.Leu157Arg) c.1283T>G (p.Leu428Arg) c.1187T>G (p.Leu396Arg) c.8370+124165A>C (n.8370+124165A>C) | |
2 | g.108897211A>G | CA348048542 | EDAR,RANBP2 | c.1043T>C (p.Leu348Pro) c.1139T>C (p.Leu380Pro) c.1190T>C (p.Leu397Pro) c.1094T>C (p.Leu365Pro) c.470T>C (p.Leu157Pro) c.1283T>C (p.Leu428Pro) c.1187T>C (p.Leu396Pro) c.8370+124165A>G (n.8370+124165A>G) | |
2 | g.108897211A>T | CA348048545 | EDAR,RANBP2 | c.1043T>A (p.Leu348Gln) c.1139T>A (p.Leu380Gln) c.1190T>A (p.Leu397Gln) c.1094T>A (p.Leu365Gln) c.470T>A (p.Leu157Gln) c.1283T>A (p.Leu428Gln) c.1187T>A (p.Leu396Gln) c.8370+124165A>T (n.8370+124165A>T) | |
2 | g.108897212G>A | CA427910920 | EDAR,RANBP2 | c.1042C>T (p.Leu348=) c.1138C>T (p.Leu380=) c.1189C>T (p.Leu397=) c.1093C>T (p.Leu365=) c.469C>T (p.Leu157=) c.1282C>T (p.Leu428=) c.1186C>T (p.Leu396=) c.8370+124166G>A (n.8370+124166G>A) | |
2 | g.108897212G>C | CA348048548 | EDAR,RANBP2 | c.1042C>G (p.Leu348Val) c.1138C>G (p.Leu380Val) c.1189C>G (p.Leu397Val) c.1093C>G (p.Leu365Val) c.469C>G (p.Leu157Val) c.1282C>G (p.Leu428Val) c.1186C>G (p.Leu396Val) c.8370+124166G>C (n.8370+124166G>C) | |
2 | g.108897212G>T | CA348048549 | EDAR,RANBP2 | c.1042C>A (p.Leu348Met) c.1138C>A (p.Leu380Met) c.1189C>A (p.Leu397Met) c.1093C>A (p.Leu365Met) c.469C>A (p.Leu157Met) c.1282C>A (p.Leu428Met) c.1186C>A (p.Leu396Met) c.8370+124166G>T (n.8370+124166G>T) | |
2 | g.108897213del | CA2586969744 | EDAR,RANBP2 | c.1041del (p.Glu347AspfsTer25) c.1137del (p.Glu379AspfsTer25) c.1188del (p.Glu396AspfsTer25) c.1092del (p.Glu364AspfsTer25) c.468del (p.Glu156AspfsTer25) c.1281del (p.Glu427AspfsTer25) c.1185del (p.Glu395AspfsTer25) c.8370+124167del (n.8370+124167del) | |
2 | g.108897213C>A | CA348048552 | EDAR,RANBP2 | c.1041G>T (p.Glu347Asp) c.1137G>T (p.Glu379Asp) c.1188G>T (p.Glu396Asp) c.1092G>T (p.Glu364Asp) c.468G>T (p.Glu156Asp) c.1281G>T (p.Glu427Asp) c.1185G>T (p.Glu395Asp) c.8370+124167C>A (n.8370+124167C>A) | dbSNP |
2 | g.108897213C>G | CA348048555 | EDAR,RANBP2 | c.1041G>C (p.Glu347Asp) c.1137G>C (p.Glu379Asp) c.1188G>C (p.Glu396Asp) c.1092G>C (p.Glu364Asp) c.468G>C (p.Glu156Asp) c.1281G>C (p.Glu427Asp) c.1185G>C (p.Glu395Asp) c.8370+124167C>G (n.8370+124167C>G) | |
2 | g.108897213C>T | CA427910925 | EDAR,RANBP2 | c.1041G>A (p.Glu347=) c.1137G>A (p.Glu379=) c.1188G>A (p.Glu396=) c.1092G>A (p.Glu364=) c.468G>A (p.Glu156=) c.1281G>A (p.Glu427=) c.1185G>A (p.Glu395=) c.8370+124167C>T (n.8370+124167C>T) | |
2 | g.108897214T>A | CA348048557 | EDAR,RANBP2 | c.1040A>T (p.Glu347Val) c.1136A>T (p.Glu379Val) c.1187A>T (p.Glu396Val) c.1091A>T (p.Glu364Val) c.467A>T (p.Glu156Val) c.1280A>T (p.Glu427Val) c.1184A>T (p.Glu395Val) c.8370+124168T>A (n.8370+124168T>A) | |
2 | g.108897214T>C | CA348048559 | EDAR,RANBP2 | c.1040A>G (p.Glu347Gly) c.1136A>G (p.Glu379Gly) c.1187A>G (p.Glu396Gly) c.1091A>G (p.Glu364Gly) c.467A>G (p.Glu156Gly) c.1280A>G (p.Glu427Gly) c.1184A>G (p.Glu395Gly) c.8370+124168T>C (n.8370+124168T>C) | |
2 | g.108897214T>G | CA348048562 | EDAR,RANBP2 | c.1040A>C (p.Glu347Ala) c.1136A>C (p.Glu379Ala) c.1187A>C (p.Glu396Ala) c.1091A>C (p.Glu364Ala) c.467A>C (p.Glu156Ala) c.1280A>C (p.Glu427Ala) c.1184A>C (p.Glu395Ala) c.8370+124168T>G (n.8370+124168T>G) | |
2 | g.108897215C>A | CA348048568 | EDAR,RANBP2 | c.1039G>T (p.Glu347Ter) c.1135G>T (p.Glu379Ter) c.1186G>T (p.Glu396Ter) c.1090G>T (p.Glu364Ter) c.466G>T (p.Glu156Ter) c.1279G>T (p.Glu427Ter) c.1183G>T (p.Glu395Ter) c.8370+124169C>A (n.8370+124169C>A) | gnomAD v4 |
2 | g.108897215C>G | CA348048570 | EDAR,RANBP2 | c.1039G>C (p.Glu347Gln) c.1135G>C (p.Glu379Gln) c.1186G>C (p.Glu396Gln) c.1090G>C (p.Glu364Gln) c.466G>C (p.Glu156Gln) c.1279G>C (p.Glu427Gln) c.1183G>C (p.Glu395Gln) c.8370+124169C>G (n.8370+124169C>G) | |
2 | g.108897215C>T | CA348048565 | EDAR,RANBP2 | c.1039G>A (p.Glu347Lys) c.1135G>A (p.Glu379Lys) c.1186G>A (p.Glu396Lys) c.1090G>A (p.Glu364Lys) c.466G>A (p.Glu156Lys) c.1279G>A (p.Glu427Lys) c.1183G>A (p.Glu395Lys) c.8370+124169C>T (n.8370+124169C>T) | |
2 | g.108897216C>A | CA427910936 | EDAR,RANBP2 | c.1038G>T (p.Thr346=) c.1134G>T (p.Thr378=) c.1185G>T (p.Thr395=) c.1089G>T (p.Thr363=) c.465G>T (p.Thr155=) c.1278G>T (p.Thr426=) c.1182G>T (p.Thr394=) c.8370+124170C>A (n.8370+124170C>A) | |
2 | g.108897216C= | CA1278354327 | EDAR,RANBP2 | c.1038G= (p.Thr346=) c.1134G= (p.Thr378=) c.1185G= (p.Thr395=) c.1089G= (p.Thr363=) c.465G= (p.Thr155=) c.1278G= (p.Thr426=) c.1182G= (p.Thr394=) c.8370+124170C= (n.8370+124170C=) | |
2 | g.108897216C>G | CA427910938 | EDAR,RANBP2 | c.1038G>C (p.Thr346=) c.1134G>C (p.Thr378=) c.1185G>C (p.Thr395=) c.1089G>C (p.Thr363=) c.465G>C (p.Thr155=) c.1278G>C (p.Thr426=) c.1182G>C (p.Thr394=) c.8370+124170C>G (n.8370+124170C>G) | |
2 | g.108897216C>T | CA1824827 | EDAR,RANBP2 | c.1038G>A (p.Thr346=) c.1134G>A (p.Thr378=) c.1185G>A (p.Thr395=) c.1089G>A (p.Thr363=) c.465G>A (p.Thr155=) c.1278G>A (p.Thr426=) c.1182G>A (p.Thr394=) c.8370+124170C>T (n.8370+124170C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897217G>A | CA1824828 | EDAR,RANBP2 | c.1037C>T (p.Thr346Met) c.1133C>T (p.Thr378Met) c.1184C>T (p.Thr395Met) c.1088C>T (p.Thr363Met) c.464C>T (p.Thr155Met) c.1277C>T (p.Thr426Met) c.1181C>T (p.Thr394Met) c.8370+124171G>A (n.8370+124171G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897217G>C | CA348048576 | EDAR,RANBP2 | c.1037C>G (p.Thr346Arg) c.1133C>G (p.Thr378Arg) c.1184C>G (p.Thr395Arg) c.1088C>G (p.Thr363Arg) c.464C>G (p.Thr155Arg) c.1277C>G (p.Thr426Arg) c.1181C>G (p.Thr394Arg) c.8370+124171G>C (n.8370+124171G>C) | |
2 | g.108897217G= | CA1278354328 | EDAR,RANBP2 | c.1037C= (p.Thr346=) c.1133C= (p.Thr378=) c.1184C= (p.Thr395=) c.1088C= (p.Thr363=) c.464C= (p.Thr155=) c.1277C= (p.Thr426=) c.1181C= (p.Thr394=) c.8370+124171G= (n.8370+124171G=) | |
2 | g.108897217G>T | CA348048578 | EDAR,RANBP2 | c.1037C>A (p.Thr346Lys) c.1133C>A (p.Thr378Lys) c.1184C>A (p.Thr395Lys) c.1088C>A (p.Thr363Lys) c.464C>A (p.Thr155Lys) c.1277C>A (p.Thr426Lys) c.1181C>A (p.Thr394Lys) c.8370+124171G>T (n.8370+124171G>T) | COSMIC COSMIC |
2 | g.108897218T>A | CA348048581 | EDAR,RANBP2 | c.1036A>T (p.Thr346Ser) c.1132A>T (p.Thr378Ser) c.1183A>T (p.Thr395Ser) c.1087A>T (p.Thr363Ser) c.463A>T (p.Thr155Ser) c.1276A>T (p.Thr426Ser) c.1180A>T (p.Thr394Ser) c.8370+124172T>A (n.8370+124172T>A) | |
2 | g.108897218T>C | CA348048584 | EDAR,RANBP2 | c.1036A>G (p.Thr346Ala) c.1132A>G (p.Thr378Ala) c.1183A>G (p.Thr395Ala) c.1087A>G (p.Thr363Ala) c.463A>G (p.Thr155Ala) c.1276A>G (p.Thr426Ala) c.1180A>G (p.Thr394Ala) c.8370+124172T>C (n.8370+124172T>C) | |
2 | g.108897218T>G | CA348048586 | EDAR,RANBP2 | c.1036A>C (p.Thr346Pro) c.1132A>C (p.Thr378Pro) c.1183A>C (p.Thr395Pro) c.1087A>C (p.Thr363Pro) c.463A>C (p.Thr155Pro) c.1276A>C (p.Thr426Pro) c.1180A>C (p.Thr394Pro) c.8370+124172T>G (n.8370+124172T>G) | |
2 | g.108897219G>A | CA427910943 | EDAR,RANBP2 | c.1035C>T (p.Pro345=) c.1131C>T (p.Pro377=) c.1182C>T (p.Pro394=) c.1086C>T (p.Pro362=) c.462C>T (p.Pro154=) c.1275C>T (p.Pro425=) c.1179C>T (p.Pro393=) c.8370+124173G>A (n.8370+124173G>A) | |
2 | g.108897219G>C | CA427910944 | EDAR,RANBP2 | c.1035C>G (p.Pro345=) c.1131C>G (p.Pro377=) c.1182C>G (p.Pro394=) c.1086C>G (p.Pro362=) c.462C>G (p.Pro154=) c.1275C>G (p.Pro425=) c.1179C>G (p.Pro393=) c.8370+124173G>C (n.8370+124173G>C) | |
2 | g.108897219G>T | CA427910946 | EDAR,RANBP2 | c.1035C>A (p.Pro345=) c.1131C>A (p.Pro377=) c.1182C>A (p.Pro394=) c.1086C>A (p.Pro362=) c.462C>A (p.Pro154=) c.1275C>A (p.Pro425=) c.1179C>A (p.Pro393=) c.8370+124173G>T (n.8370+124173G>T) | |
2 | g.108897222dup | CA645528582 | EDAR,RANBP2 | c.1035dup (p.Thr346HisfsTer6) c.1131dup (p.Thr378HisfsTer6) c.1182dup (p.Thr395HisfsTer6) c.1086dup (p.Thr363HisfsTer6) c.462dup (p.Thr155HisfsTer6) c.1275dup (p.Thr426HisfsTer6) c.1179dup (p.Thr394HisfsTer6) c.8370+124176dup (n.8370+124176dup) | COSMIC COSMIC |
2 | g.108897220G>A | CA348048590 | EDAR,RANBP2 | c.1034C>T (p.Pro345Leu) c.1130C>T (p.Pro377Leu) c.1181C>T (p.Pro394Leu) c.1085C>T (p.Pro362Leu) c.461C>T (p.Pro154Leu) c.1274C>T (p.Pro425Leu) c.1178C>T (p.Pro393Leu) c.8370+124174G>A (n.8370+124174G>A) | |
2 | g.108897220G>C | CA348048595 | EDAR,RANBP2 | c.1034C>G (p.Pro345Arg) c.1130C>G (p.Pro377Arg) c.1181C>G (p.Pro394Arg) c.1085C>G (p.Pro362Arg) c.461C>G (p.Pro154Arg) c.1274C>G (p.Pro425Arg) c.1178C>G (p.Pro393Arg) c.8370+124174G>C (n.8370+124174G>C) | |
2 | g.108897220G>T | CA348048593 | EDAR,RANBP2 | c.1034C>A (p.Pro345His) c.1130C>A (p.Pro377His) c.1181C>A (p.Pro394His) c.1085C>A (p.Pro362His) c.461C>A (p.Pro154His) c.1274C>A (p.Pro425His) c.1178C>A (p.Pro393His) c.8370+124174G>T (n.8370+124174G>T) | |
2 | g.108897221G>A | CA348048598 | EDAR,RANBP2 | c.1033C>T (p.Pro345Ser) c.1129C>T (p.Pro377Ser) c.1180C>T (p.Pro394Ser) c.1084C>T (p.Pro362Ser) c.460C>T (p.Pro154Ser) c.1273C>T (p.Pro425Ser) c.1177C>T (p.Pro393Ser) c.8370+124175G>A (n.8370+124175G>A) | |
2 | g.108897221G>C | CA348048600 | EDAR,RANBP2 | c.1033C>G (p.Pro345Ala) c.1129C>G (p.Pro377Ala) c.1180C>G (p.Pro394Ala) c.1084C>G (p.Pro362Ala) c.460C>G (p.Pro154Ala) c.1273C>G (p.Pro425Ala) c.1177C>G (p.Pro393Ala) c.8370+124175G>C (n.8370+124175G>C) | |
2 | g.108897221G>T | CA348048603 | EDAR,RANBP2 | c.1033C>A (p.Pro345Thr) c.1129C>A (p.Pro377Thr) c.1180C>A (p.Pro394Thr) c.1084C>A (p.Pro362Thr) c.460C>A (p.Pro154Thr) c.1273C>A (p.Pro425Thr) c.1177C>A (p.Pro393Thr) c.8370+124175G>T (n.8370+124175G>T) | gnomAD v4 |
2 | g.108897222G>A | CA427910950 | EDAR,RANBP2 | c.1032C>T (p.Ser344=) c.1128C>T (p.Ser376=) c.1179C>T (p.Ser393=) c.1083C>T (p.Ser361=) c.459C>T (p.Ser153=) c.1272C>T (p.Ser424=) c.1176C>T (p.Ser392=) c.8370+124176G>A (n.8370+124176G>A) | gnomAD v4 |
2 | g.108897222G>C | CA348048605 | EDAR,RANBP2 | c.1032C>G (p.Ser344Arg) c.1128C>G (p.Ser376Arg) c.1179C>G (p.Ser393Arg) c.1083C>G (p.Ser361Arg) c.459C>G (p.Ser153Arg) c.1272C>G (p.Ser424Arg) c.1176C>G (p.Ser392Arg) c.8370+124176G>C (n.8370+124176G>C) | |
2 | g.108897222G>T | CA348048607 | EDAR,RANBP2 | c.1032C>A (p.Ser344Arg) c.1128C>A (p.Ser376Arg) c.1179C>A (p.Ser393Arg) c.1083C>A (p.Ser361Arg) c.459C>A (p.Ser153Arg) c.1272C>A (p.Ser424Arg) c.1176C>A (p.Ser392Arg) c.8370+124176G>T (n.8370+124176G>T) | gnomAD v4 |
2 | g.108897223C>A | CA348048610 | EDAR,RANBP2 | c.1031G>T (p.Ser344Ile) c.1127G>T (p.Ser376Ile) c.1178G>T (p.Ser393Ile) c.1082G>T (p.Ser361Ile) c.458G>T (p.Ser153Ile) c.1271G>T (p.Ser424Ile) c.1175G>T (p.Ser392Ile) c.8370+124177C>A (n.8370+124177C>A) | dbSNP |
2 | g.108897223C>G | CA348048614 | EDAR,RANBP2 | c.1031G>C (p.Ser344Thr) c.1127G>C (p.Ser376Thr) c.1178G>C (p.Ser393Thr) c.1082G>C (p.Ser361Thr) c.458G>C (p.Ser153Thr) c.1271G>C (p.Ser424Thr) c.1175G>C (p.Ser392Thr) c.8370+124177C>G (n.8370+124177C>G) | |
2 | g.108897223C>T | CA348048612 | EDAR,RANBP2 | c.1031G>A (p.Ser344Asn) c.1127G>A (p.Ser376Asn) c.1178G>A (p.Ser393Asn) c.1082G>A (p.Ser361Asn) c.458G>A (p.Ser153Asn) c.1271G>A (p.Ser424Asn) c.1175G>A (p.Ser392Asn) c.8370+124177C>T (n.8370+124177C>T) | |
2 | g.108897224T>A | CA348048617 | EDAR,RANBP2 | c.1030A>T (p.Ser344Cys) c.1126A>T (p.Ser376Cys) c.1177A>T (p.Ser393Cys) c.1081A>T (p.Ser361Cys) c.457A>T (p.Ser153Cys) c.1270A>T (p.Ser424Cys) c.1174A>T (p.Ser392Cys) c.8370+124178T>A (n.8370+124178T>A) | |
2 | g.108897224T>C | CA348048618 | EDAR,RANBP2 | c.1030A>G (p.Ser344Gly) c.1126A>G (p.Ser376Gly) c.1177A>G (p.Ser393Gly) c.1081A>G (p.Ser361Gly) c.457A>G (p.Ser153Gly) c.1270A>G (p.Ser424Gly) c.1174A>G (p.Ser392Gly) c.8370+124178T>C (n.8370+124178T>C) | |
2 | g.108897224T>G | CA348048621 | EDAR,RANBP2 | c.1030A>C (p.Ser344Arg) c.1126A>C (p.Ser376Arg) c.1177A>C (p.Ser393Arg) c.1081A>C (p.Ser361Arg) c.457A>C (p.Ser153Arg) c.1270A>C (p.Ser424Arg) c.1174A>C (p.Ser392Arg) c.8370+124178T>G (n.8370+124178T>G) | |
2 | g.108897225A= | CA1278354329 | EDAR,RANBP2 | c.1029T= (p.Leu343=) c.1125T= (p.Leu375=) c.1176T= (p.Leu392=) c.1080T= (p.Leu360=) c.456T= (p.Leu152=) c.1269T= (p.Leu423=) c.1173T= (p.Leu391=) c.8370+124179A= (n.8370+124179A=) | |
2 | g.108897225A>C | CA427910957 | EDAR,RANBP2 | c.1029T>G (p.Leu343=) c.1125T>G (p.Leu375=) c.1176T>G (p.Leu392=) c.1080T>G (p.Leu360=) c.456T>G (p.Leu152=) c.1269T>G (p.Leu423=) c.1173T>G (p.Leu391=) c.8370+124179A>C (n.8370+124179A>C) | |
2 | g.108897225A>G | CA53464979 | EDAR,RANBP2 | c.1029T>C (p.Leu343=) c.1125T>C (p.Leu375=) c.1176T>C (p.Leu392=) c.1080T>C (p.Leu360=) c.456T>C (p.Leu152=) c.1269T>C (p.Leu423=) c.1173T>C (p.Leu391=) c.8370+124179A>G (n.8370+124179A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897225A>T | CA427910958 | EDAR,RANBP2 | c.1029T>A (p.Leu343=) c.1125T>A (p.Leu375=) c.1176T>A (p.Leu392=) c.1080T>A (p.Leu360=) c.456T>A (p.Leu152=) c.1269T>A (p.Leu423=) c.1173T>A (p.Leu391=) c.8370+124179A>T (n.8370+124179A>T) | |
2 | g.108897226A>C | CA348048624 | EDAR,RANBP2 | c.1028T>G (p.Leu343Arg) c.1124T>G (p.Leu375Arg) c.1175T>G (p.Leu392Arg) c.1079T>G (p.Leu360Arg) c.455T>G (p.Leu152Arg) c.1268T>G (p.Leu423Arg) c.1172T>G (p.Leu391Arg) c.8370+124180A>C (n.8370+124180A>C) | gnomAD v4 |
2 | g.108897226A>G | CA348048626 | EDAR,RANBP2 | c.1028T>C (p.Leu343Pro) c.1124T>C (p.Leu375Pro) c.1175T>C (p.Leu392Pro) c.1079T>C (p.Leu360Pro) c.455T>C (p.Leu152Pro) c.1268T>C (p.Leu423Pro) c.1172T>C (p.Leu391Pro) c.8370+124180A>G (n.8370+124180A>G) | |
2 | g.108897226A>T | CA348048629 | EDAR,RANBP2 | c.1028T>A (p.Leu343His) c.1124T>A (p.Leu375His) c.1175T>A (p.Leu392His) c.1079T>A (p.Leu360His) c.455T>A (p.Leu152His) c.1268T>A (p.Leu423His) c.1172T>A (p.Leu391His) c.8370+124180A>T (n.8370+124180A>T) | |
2 | g.108897227G>A | CA348048630 | EDAR,RANBP2 | c.1027C>T (p.Leu343Phe) c.1123C>T (p.Leu375Phe) c.1174C>T (p.Leu392Phe) c.1078C>T (p.Leu360Phe) c.454C>T (p.Leu152Phe) c.1267C>T (p.Leu423Phe) c.1171C>T (p.Leu391Phe) c.8370+124181G>A (n.8370+124181G>A) | |
2 | g.108897227G>C | CA348048632 | EDAR,RANBP2 | c.1027C>G (p.Leu343Val) c.1123C>G (p.Leu375Val) c.1174C>G (p.Leu392Val) c.1078C>G (p.Leu360Val) c.454C>G (p.Leu152Val) c.1267C>G (p.Leu423Val) c.1171C>G (p.Leu391Val) c.8370+124181G>C (n.8370+124181G>C) | |
2 | g.108897227G>T | CA348048634 | EDAR,RANBP2 | c.1027C>A (p.Leu343Ile) c.1123C>A (p.Leu375Ile) c.1174C>A (p.Leu392Ile) c.1078C>A (p.Leu360Ile) c.454C>A (p.Leu152Ile) c.1267C>A (p.Leu423Ile) c.1171C>A (p.Leu391Ile) c.8370+124181G>T (n.8370+124181G>T) | gnomAD v4 |
2 | g.108897228A>C | CA427910962 | EDAR,RANBP2 | c.1026T>G (p.Gly342=) c.1122T>G (p.Gly374=) c.1173T>G (p.Gly391=) c.1077T>G (p.Gly359=) c.453T>G (p.Gly151=) c.1266T>G (p.Gly422=) c.1170T>G (p.Gly390=) c.8370+124182A>C (n.8370+124182A>C) | |
2 | g.108897228A>G | CA427910965 | EDAR,RANBP2 | c.1026T>C (p.Gly342=) c.1122T>C (p.Gly374=) c.1173T>C (p.Gly391=) c.1077T>C (p.Gly359=) c.453T>C (p.Gly151=) c.1266T>C (p.Gly422=) c.1170T>C (p.Gly390=) c.8370+124182A>G (n.8370+124182A>G) | |
2 | g.108897228A>T | CA427910964 | EDAR,RANBP2 | c.1026T>A (p.Gly342=) c.1122T>A (p.Gly374=) c.1173T>A (p.Gly391=) c.1077T>A (p.Gly359=) c.453T>A (p.Gly151=) c.1266T>A (p.Gly422=) c.1170T>A (p.Gly390=) c.8370+124182A>T (n.8370+124182A>T) | |
2 | g.108897229C>A | CA348048636 | EDAR,RANBP2 | c.1025G>T (p.Gly342Val) c.1121G>T (p.Gly374Val) c.1172G>T (p.Gly391Val) c.1076G>T (p.Gly359Val) c.452G>T (p.Gly151Val) c.1265G>T (p.Gly422Val) c.1169G>T (p.Gly390Val) c.8370+124183C>A (n.8370+124183C>A) | |
2 | g.108897229C>G | CA348048639 | EDAR,RANBP2 | c.1025G>C (p.Gly342Ala) c.1121G>C (p.Gly374Ala) c.1172G>C (p.Gly391Ala) c.1076G>C (p.Gly359Ala) c.452G>C (p.Gly151Ala) c.1265G>C (p.Gly422Ala) c.1169G>C (p.Gly390Ala) c.8370+124183C>G (n.8370+124183C>G) | |
2 | g.108897229C>T | CA348048642 | EDAR,RANBP2 | c.1025G>A (p.Gly342Asp) c.1121G>A (p.Gly374Asp) c.1172G>A (p.Gly391Asp) c.1076G>A (p.Gly359Asp) c.452G>A (p.Gly151Asp) c.1265G>A (p.Gly422Asp) c.1169G>A (p.Gly390Asp) c.8370+124183C>T (n.8370+124183C>T) | |
2 | g.108897230C>A | CA348048649 | EDAR,RANBP2 | c.1025-1G>T (n.1025-1G>T) c.1121-1G>T (n.1121-1G>T) c.1172-1G>T (n.1172-1G>T) c.1076-1G>T (n.1076-1G>T) c.452-1G>T (n.452-1G>T) c.1265-1G>T (n.1265-1G>T) c.1169-1G>T (n.1169-1G>T) c.8370+124184C>A (n.8370+124184C>A) | |
2 | g.108897230C= | CA1278354330 | EDAR,RANBP2 | c.1025-1G= (n.1025-1G=) c.1121-1G= (n.1121-1G=) c.1172-1G= (n.1172-1G=) c.1076-1G= (n.1076-1G=) c.452-1G= (n.452-1G=) c.1265-1G= (n.1265-1G=) c.1169-1G= (n.1169-1G=) c.8370+124184C= (n.8370+124184C=) | |
2 | g.108897230C>G | CA348048646 | EDAR,RANBP2 | c.1025-1G>C (n.1025-1G>C) c.1121-1G>C (n.1121-1G>C) c.1172-1G>C (n.1172-1G>C) c.1076-1G>C (n.1076-1G>C) c.452-1G>C (n.452-1G>C) c.1265-1G>C (n.1265-1G>C) c.1169-1G>C (n.1169-1G>C) c.8370+124184C>G (n.8370+124184C>G) | dbSNP gnomAD v4 |
2 | g.108897230C>T | CA348048644 | EDAR,RANBP2 | c.1025-1G>A (n.1025-1G>A) c.1121-1G>A (n.1121-1G>A) c.1172-1G>A (n.1172-1G>A) c.1076-1G>A (n.1076-1G>A) c.452-1G>A (n.452-1G>A) c.1265-1G>A (n.1265-1G>A) c.1169-1G>A (n.1169-1G>A) c.8370+124184C>T (n.8370+124184C>T) | |
2 | g.108897231T>A | CA348048653 | EDAR,RANBP2 | c.1025-2A>T (n.1025-2A>T) c.1121-2A>T (n.1121-2A>T) c.1172-2A>T (n.1172-2A>T) c.1076-2A>T (n.1076-2A>T) c.452-2A>T (n.452-2A>T) c.1265-2A>T (n.1265-2A>T) c.1169-2A>T (n.1169-2A>T) c.8370+124185T>A (n.8370+124185T>A) | |
2 | g.108897231T>C | CA348048658 | EDAR,RANBP2 | c.1025-2A>G (n.1025-2A>G) c.1121-2A>G (n.1121-2A>G) c.1172-2A>G (n.1172-2A>G) c.1076-2A>G (n.1076-2A>G) c.452-2A>G (n.452-2A>G) c.1265-2A>G (n.1265-2A>G) c.1169-2A>G (n.1169-2A>G) c.8370+124185T>C (n.8370+124185T>C) | |
2 | g.108897231T>G | CA348048655 | EDAR,RANBP2 | c.1025-2A>C (n.1025-2A>C) c.1121-2A>C (n.1121-2A>C) c.1172-2A>C (n.1172-2A>C) c.1076-2A>C (n.1076-2A>C) c.452-2A>C (n.452-2A>C) c.1265-2A>C (n.1265-2A>C) c.1169-2A>C (n.1169-2A>C) c.8370+124185T>G (n.8370+124185T>G) | |
2 | g.108897232A= | CA1278354331 | EDAR,RANBP2 | c.1025-3T= (n.1025-3T=) c.1121-3T= (n.1121-3T=) c.1172-3T= (n.1172-3T=) c.1076-3T= (n.1076-3T=) c.452-3T= (n.452-3T=) c.1265-3T= (n.1265-3T=) c.1169-3T= (n.1169-3T=) c.8370+124186A= (n.8370+124186A=) | |
2 | g.108897232A>C | CA2577065500 | EDAR,RANBP2 | c.1025-3T>G (n.1025-3T>G) c.1121-3T>G (n.1121-3T>G) c.1172-3T>G (n.1172-3T>G) c.1076-3T>G (n.1076-3T>G) c.452-3T>G (n.452-3T>G) c.1265-3T>G (n.1265-3T>G) c.1169-3T>G (n.1169-3T>G) c.8370+124186A>C (n.8370+124186A>C) | |
2 | g.108897232A>G | CA754956294 | EDAR,RANBP2 | c.1025-3T>C (n.1025-3T>C) c.1121-3T>C (n.1121-3T>C) c.1172-3T>C (n.1172-3T>C) c.1076-3T>C (n.1076-3T>C) c.452-3T>C (n.452-3T>C) c.1265-3T>C (n.1265-3T>C) c.1169-3T>C (n.1169-3T>C) c.8370+124186A>G (n.8370+124186A>G) | dbSNP gnomAD v4 |
2 | g.108897233C>T | CA2660593656 | EDAR,RANBP2 | c.1025-4G>A (n.1025-4G>A) c.1121-4G>A (n.1121-4G>A) c.1172-4G>A (n.1172-4G>A) c.1076-4G>A (n.1076-4G>A) c.452-4G>A (n.452-4G>A) c.1265-4G>A (n.1265-4G>A) c.1169-4G>A (n.1169-4G>A) c.8370+124187C>T (n.8370+124187C>T) | gnomAD v4 |
2 | g.108897234A= | CA1278354332 | EDAR,RANBP2 | c.1025-5T= (n.1025-5T=) c.1121-5T= (n.1121-5T=) c.1172-5T= (n.1172-5T=) c.1076-5T= (n.1076-5T=) c.452-5T= (n.452-5T=) c.1265-5T= (n.1265-5T=) c.1169-5T= (n.1169-5T=) c.8370+124188A= (n.8370+124188A=) | |
2 | g.108897234A>C | CA535179324 | EDAR,RANBP2 | c.1025-5T>G (n.1025-5T>G) c.1121-5T>G (n.1121-5T>G) c.1172-5T>G (n.1172-5T>G) c.1076-5T>G (n.1076-5T>G) c.452-5T>G (n.452-5T>G) c.1265-5T>G (n.1265-5T>G) c.1169-5T>G (n.1169-5T>G) c.8370+124188A>C (n.8370+124188A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897234A>G | CA2660593657 | EDAR,RANBP2 | c.1025-5T>C (n.1025-5T>C) c.1121-5T>C (n.1121-5T>C) c.1172-5T>C (n.1172-5T>C) c.1076-5T>C (n.1076-5T>C) c.452-5T>C (n.452-5T>C) c.1265-5T>C (n.1265-5T>C) c.1169-5T>C (n.1169-5T>C) c.8370+124188A>G (n.8370+124188A>G) | gnomAD v4 |
2 | g.108897236_108897237insAAGA | CA2660593658 | EDAR,RANBP2 | c.1025-5_1025-4insTTCT (n.1025-5_1025-4insTTCT) c.1121-5_1121-4insTTCT (n.1121-5_1121-4insTTCT) c.1172-5_1172-4insTTCT (n.1172-5_1172-4insTTCT) c.1076-5_1076-4insTTCT (n.1076-5_1076-4insTTCT) c.452-5_452-4insTTCT (n.452-5_452-4insTTCT) c.1265-5_1265-4insTTCT (n.1265-5_1265-4insTTCT) c.1169-5_1169-4insTTCT (n.1169-5_1169-4insTTCT) c.8370+124190_8370+124191insAAGA (n.8370+124190_8370+124191insAAGA) | gnomAD v4 |
2 | g.108897235G>A | CA2660593660 | EDAR,RANBP2 | c.1025-6C>T (n.1025-6C>T) c.1121-6C>T (n.1121-6C>T) c.1172-6C>T (n.1172-6C>T) c.1076-6C>T (n.1076-6C>T) c.452-6C>T (n.452-6C>T) c.1265-6C>T (n.1265-6C>T) c.1169-6C>T (n.1169-6C>T) c.8370+124189G>A (n.8370+124189G>A) | gnomAD v4 |
2 | g.108897235G>C | CA754956299 | EDAR,RANBP2 | c.1025-6C>G (n.1025-6C>G) c.1121-6C>G (n.1121-6C>G) c.1172-6C>G (n.1172-6C>G) c.1076-6C>G (n.1076-6C>G) c.452-6C>G (n.452-6C>G) c.1265-6C>G (n.1265-6C>G) c.1169-6C>G (n.1169-6C>G) c.8370+124189G>C (n.8370+124189G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108897235G= | CA1278354333 | EDAR,RANBP2 | c.1025-6C= (n.1025-6C=) c.1121-6C= (n.1121-6C=) c.1172-6C= (n.1172-6C=) c.1076-6C= (n.1076-6C=) c.452-6C= (n.452-6C=) c.1265-6C= (n.1265-6C=) c.1169-6C= (n.1169-6C=) c.8370+124189G= (n.8370+124189G=) | |
2 | g.108897235G>T | CA2660593659 | EDAR,RANBP2 | c.1025-6C>A (n.1025-6C>A) c.1121-6C>A (n.1121-6C>A) c.1172-6C>A (n.1172-6C>A) c.1076-6C>A (n.1076-6C>A) c.452-6C>A (n.452-6C>A) c.1265-6C>A (n.1265-6C>A) c.1169-6C>A (n.1169-6C>A) c.8370+124189G>T (n.8370+124189G>T) | gnomAD v4 |
2 | g.108897236_108897246delinsACACCAATGGC | CA1278354334 | EDAR,RANBP2 | c.1025-17_1025-7delinsGCCATTGGTGT (n.1025-17_1025-7delinsGCCATTGGTGT) c.1121-17_1121-7delinsGCCATTGGTGT (n.1121-17_1121-7delinsGCCATTGGTGT) c.1172-17_1172-7delinsGCCATTGGTGT (n.1172-17_1172-7delinsGCCATTGGTGT) c.1076-17_1076-7delinsGCCATTGGTGT (n.1076-17_1076-7delinsGCCATTGGTGT) c.452-17_452-7delinsGCCATTGGTGT (n.452-17_452-7delinsGCCATTGGTGT) c.1265-17_1265-7delinsGCCATTGGTGT (n.1265-17_1265-7delinsGCCATTGGTGT) c.1169-17_1169-7delinsGCCATTGGTGT (n.1169-17_1169-7delinsGCCATTGGTGT) c.8370+124190_8370+124200delinsACACCAATGGC (n.8370+124190_8370+124200delinsACACCAATGGC) | |
2 | g.108897237C>G | CA2660593661 | EDAR,RANBP2 | c.1025-8G>C (n.1025-8G>C) c.1121-8G>C (n.1121-8G>C) c.1172-8G>C (n.1172-8G>C) c.1076-8G>C (n.1076-8G>C) c.452-8G>C (n.452-8G>C) c.1265-8G>C (n.1265-8G>C) c.1169-8G>C (n.1169-8G>C) c.8370+124191C>G (n.8370+124191C>G) | gnomAD v4 |
2 | g.108897240_108897249del | CA1034837555 | EDAR,RANBP2 | c.1025-17_1025-8del (n.1025-17_1025-8del) c.1121-17_1121-8del (n.1121-17_1121-8del) c.1172-17_1172-8del (n.1172-17_1172-8del) c.1076-17_1076-8del (n.1076-17_1076-8del) c.452-17_452-8del (n.452-17_452-8del) c.1265-17_1265-8del (n.1265-17_1265-8del) c.1169-17_1169-8del (n.1169-17_1169-8del) c.8370+124194_8370+124203del (n.8370+124194_8370+124203del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108897238A= | CA1278354335 | EDAR,RANBP2 | c.1025-9T= (n.1025-9T=) c.1121-9T= (n.1121-9T=) c.1172-9T= (n.1172-9T=) c.1076-9T= (n.1076-9T=) c.452-9T= (n.452-9T=) c.1265-9T= (n.1265-9T=) c.1169-9T= (n.1169-9T=) c.8370+124192A= (n.8370+124192A=) | |
2 | g.108897238A>G | CA1034837561 | EDAR,RANBP2 | c.1025-9T>C (n.1025-9T>C) c.1121-9T>C (n.1121-9T>C) c.1172-9T>C (n.1172-9T>C) c.1076-9T>C (n.1076-9T>C) c.452-9T>C (n.452-9T>C) c.1265-9T>C (n.1265-9T>C) c.1169-9T>C (n.1169-9T>C) c.8370+124192A>G (n.8370+124192A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108897239C>A | CA2577065501 | EDAR,RANBP2 | c.1025-10G>T (n.1025-10G>T) c.1121-10G>T (n.1121-10G>T) c.1172-10G>T (n.1172-10G>T) c.1076-10G>T (n.1076-10G>T) c.452-10G>T (n.452-10G>T) c.1265-10G>T (n.1265-10G>T) c.1169-10G>T (n.1169-10G>T) c.8370+124193C>A (n.8370+124193C>A) | |
2 | g.108897239C= | CA1278354336 | EDAR,RANBP2 | c.1025-10G= (n.1025-10G=) c.1121-10G= (n.1121-10G=) c.1172-10G= (n.1172-10G=) c.1076-10G= (n.1076-10G=) c.452-10G= (n.452-10G=) c.1265-10G= (n.1265-10G=) c.1169-10G= (n.1169-10G=) c.8370+124193C= (n.8370+124193C=) | |
2 | g.108897239C>G | CA1824829 | EDAR,RANBP2 | c.1025-10G>C (n.1025-10G>C) c.1121-10G>C (n.1121-10G>C) c.1172-10G>C (n.1172-10G>C) c.1076-10G>C (n.1076-10G>C) c.452-10G>C (n.452-10G>C) c.1265-10G>C (n.1265-10G>C) c.1169-10G>C (n.1169-10G>C) c.8370+124193C>G (n.8370+124193C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108897240_108897243dup | CA2660593662 | EDAR,RANBP2 | c.1025-14_1025-11dup (n.1025-14_1025-11dup) c.1121-14_1121-11dup (n.1121-14_1121-11dup) c.1172-14_1172-11dup (n.1172-14_1172-11dup) c.1076-14_1076-11dup (n.1076-14_1076-11dup) c.452-14_452-11dup (n.452-14_452-11dup) c.1265-14_1265-11dup (n.1265-14_1265-11dup) c.1169-14_1169-11dup (n.1169-14_1169-11dup) c.8370+124194_8370+124197dup (n.8370+124194_8370+124197dup) | gnomAD v4 |
2 | g.108897242A= | CA1278354337 | EDAR,RANBP2 | c.1025-13T= (n.1025-13T=) c.1121-13T= (n.1121-13T=) c.1172-13T= (n.1172-13T=) c.1076-13T= (n.1076-13T=) c.452-13T= (n.452-13T=) c.1265-13T= (n.1265-13T=) c.1169-13T= (n.1169-13T=) c.8370+124196A= (n.8370+124196A=) | |
2 | g.108897242A>G | CA1824830 | EDAR,RANBP2 | c.1025-13T>C (n.1025-13T>C) c.1121-13T>C (n.1121-13T>C) c.1172-13T>C (n.1172-13T>C) c.1076-13T>C (n.1076-13T>C) c.452-13T>C (n.452-13T>C) c.1265-13T>C (n.1265-13T>C) c.1169-13T>C (n.1169-13T>C) c.8370+124196A>G (n.8370+124196A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897243T>A | CA1824831 | EDAR,RANBP2 | c.1025-14A>T (n.1025-14A>T) c.1121-14A>T (n.1121-14A>T) c.1172-14A>T (n.1172-14A>T) c.1076-14A>T (n.1076-14A>T) c.452-14A>T (n.452-14A>T) c.1265-14A>T (n.1265-14A>T) c.1169-14A>T (n.1169-14A>T) c.8370+124197T>A (n.8370+124197T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897243T>C | CA1824832 | EDAR,RANBP2 | c.1025-14A>G (n.1025-14A>G) c.1121-14A>G (n.1121-14A>G) c.1172-14A>G (n.1172-14A>G) c.1076-14A>G (n.1076-14A>G) c.452-14A>G (n.452-14A>G) c.1265-14A>G (n.1265-14A>G) c.1169-14A>G (n.1169-14A>G) c.8370+124197T>C (n.8370+124197T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108897243T= | CA1278354338 | EDAR,RANBP2 | c.1025-14A= (n.1025-14A=) c.1121-14A= (n.1121-14A=) c.1172-14A= (n.1172-14A=) c.1076-14A= (n.1076-14A=) c.452-14A= (n.452-14A=) c.1265-14A= (n.1265-14A=) c.1169-14A= (n.1169-14A=) c.8370+124197T= (n.8370+124197T=) | |
2 | g.108897244G= | CA1278354339 | EDAR,RANBP2 | c.1025-15C= (n.1025-15C=) c.1121-15C= (n.1121-15C=) c.1172-15C= (n.1172-15C=) c.1076-15C= (n.1076-15C=) c.452-15C= (n.452-15C=) c.1265-15C= (n.1265-15C=) c.1169-15C= (n.1169-15C=) c.8370+124198G= (n.8370+124198G=) | |
2 | g.108897244G>T | CA1824833 | EDAR,RANBP2 | c.1025-15C>A (n.1025-15C>A) c.1121-15C>A (n.1121-15C>A) c.1172-15C>A (n.1172-15C>A) c.1076-15C>A (n.1076-15C>A) c.452-15C>A (n.452-15C>A) c.1265-15C>A (n.1265-15C>A) c.1169-15C>A (n.1169-15C>A) c.8370+124198G>T (n.8370+124198G>T) | dbSNP ExAC gnomAD v2 |
2 | g.108897245G>A | CA1278354341 | EDAR,RANBP2 | c.1025-16C>T (n.1025-16C>T) c.1121-16C>T (n.1121-16C>T) c.1172-16C>T (n.1172-16C>T) c.1076-16C>T (n.1076-16C>T) c.452-16C>T (n.452-16C>T) c.1265-16C>T (n.1265-16C>T) c.1169-16C>T (n.1169-16C>T) c.8370+124199G>A (n.8370+124199G>A) | dbSNP |
2 | g.108897245G>C | CA2660593663 | EDAR,RANBP2 | c.1025-16C>G (n.1025-16C>G) c.1121-16C>G (n.1121-16C>G) c.1172-16C>G (n.1172-16C>G) c.1076-16C>G (n.1076-16C>G) c.452-16C>G (n.452-16C>G) c.1265-16C>G (n.1265-16C>G) c.1169-16C>G (n.1169-16C>G) c.8370+124199G>C (n.8370+124199G>C) | gnomAD v4 |
2 | g.108897245G= | CA1278354340 | EDAR,RANBP2 | c.1025-16C= (n.1025-16C=) c.1121-16C= (n.1121-16C=) c.1172-16C= (n.1172-16C=) c.1076-16C= (n.1076-16C=) c.452-16C= (n.452-16C=) c.1265-16C= (n.1265-16C=) c.1169-16C= (n.1169-16C=) c.8370+124199G= (n.8370+124199G=) | |
2 | g.108897246C>A | CA1824834 | EDAR,RANBP2 | c.1025-17G>T (n.1025-17G>T) c.1121-17G>T (n.1121-17G>T) c.1172-17G>T (n.1172-17G>T) c.1076-17G>T (n.1076-17G>T) c.452-17G>T (n.452-17G>T) c.1265-17G>T (n.1265-17G>T) c.1169-17G>T (n.1169-17G>T) c.8370+124200C>A (n.8370+124200C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108897246C= | CA1278354342 | EDAR,RANBP2 | c.1025-17G= (n.1025-17G=) c.1121-17G= (n.1121-17G=) c.1172-17G= (n.1172-17G=) c.1076-17G= (n.1076-17G=) c.452-17G= (n.452-17G=) c.1265-17G= (n.1265-17G=) c.1169-17G= (n.1169-17G=) c.8370+124200C= (n.8370+124200C=) | |
2 | g.108897246_108897266delinsCCACAGTTAGATGTTGCAAGT | CA1278354343 | EDAR,RANBP2 | c.1025-37_1025-17delinsACTTGCAACATCTAACTGTGG (n.1025-37_1025-17delinsACTTGCAACATCTAACTGTGG) c.1121-37_1121-17delinsACTTGCAACATCTAACTGTGG (n.1121-37_1121-17delinsACTTGCAACATCTAACTGTGG) c.1172-37_1172-17delinsACTTGCAACATCTAACTGTGG (n.1172-37_1172-17delinsACTTGCAACATCTAACTGTGG) c.1076-37_1076-17delinsACTTGCAACATCTAACTGTGG (n.1076-37_1076-17delinsACTTGCAACATCTAACTGTGG) c.452-37_452-17delinsACTTGCAACATCTAACTGTGG (n.452-37_452-17delinsACTTGCAACATCTAACTGTGG) c.1265-37_1265-17delinsACTTGCAACATCTAACTGTGG (n.1265-37_1265-17delinsACTTGCAACATCTAACTGTGG) c.1169-37_1169-17delinsACTTGCAACATCTAACTGTGG (n.1169-37_1169-17delinsACTTGCAACATCTAACTGTGG) c.8370+124200_8370+124220delinsCCACAGTTAGATGTTGCAAGT (n.8370+124200_8370+124220delinsCCACAGTTAGATGTTGCAAGT) | |
2 | g.108897246_108897247insAAGT | CA1278354344 | EDAR,RANBP2 | c.1025-18_1025-17insACTT (n.1025-18_1025-17insACTT) c.1121-18_1121-17insACTT (n.1121-18_1121-17insACTT) c.1172-18_1172-17insACTT (n.1172-18_1172-17insACTT) c.1076-18_1076-17insACTT (n.1076-18_1076-17insACTT) c.452-18_452-17insACTT (n.452-18_452-17insACTT) c.1265-18_1265-17insACTT (n.1265-18_1265-17insACTT) c.1169-18_1169-17insACTT (n.1169-18_1169-17insACTT) c.8370+124200_8370+124201insAAGT (n.8370+124200_8370+124201insAAGT) | dbSNP |
2 | g.108897253_108897272del | CA754956305 | EDAR,RANBP2 | c.1025-37_1025-18del (n.1025-37_1025-18del) c.1121-37_1121-18del (n.1121-37_1121-18del) c.1172-37_1172-18del (n.1172-37_1172-18del) c.1076-37_1076-18del (n.1076-37_1076-18del) c.452-37_452-18del (n.452-37_452-18del) c.1265-37_1265-18del (n.1265-37_1265-18del) c.1169-37_1169-18del (n.1169-37_1169-18del) c.8370+124207_8370+124226del (n.8370+124207_8370+124226del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108897249C= | CA1278354345 | EDAR,RANBP2 | c.1025-20G= (n.1025-20G=) c.1121-20G= (n.1121-20G=) c.1172-20G= (n.1172-20G=) c.1076-20G= (n.1076-20G=) c.452-20G= (n.452-20G=) c.1265-20G= (n.1265-20G=) c.1169-20G= (n.1169-20G=) c.8370+124203C= (n.8370+124203C=) | |
2 | g.108897250A>G | CA2660593665 | EDAR,RANBP2 | c.1025-21T>C (n.1025-21T>C) c.1121-21T>C (n.1121-21T>C) c.1172-21T>C (n.1172-21T>C) c.1076-21T>C (n.1076-21T>C) c.452-21T>C (n.452-21T>C) c.1265-21T>C (n.1265-21T>C) c.1169-21T>C (n.1169-21T>C) c.8370+124204A>G (n.8370+124204A>G) | gnomAD v4 |
2 | g.108897252_108897255dup | CA535179325 | EDAR,RANBP2 | c.1025-24_1025-21dup (n.1025-24_1025-21dup) c.1121-24_1121-21dup (n.1121-24_1121-21dup) c.1172-24_1172-21dup (n.1172-24_1172-21dup) c.1076-24_1076-21dup (n.1076-24_1076-21dup) c.452-24_452-21dup (n.452-24_452-21dup) c.1265-24_1265-21dup (n.1265-24_1265-21dup) c.1169-24_1169-21dup (n.1169-24_1169-21dup) c.8370+124206_8370+124209dup (n.8370+124206_8370+124209dup) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897251G>T | CA2577065502 | EDAR,RANBP2 | c.1025-22C>A (n.1025-22C>A) c.1121-22C>A (n.1121-22C>A) c.1172-22C>A (n.1172-22C>A) c.1076-22C>A (n.1076-22C>A) c.452-22C>A (n.452-22C>A) c.1265-22C>A (n.1265-22C>A) c.1169-22C>A (n.1169-22C>A) c.8370+124205G>T (n.8370+124205G>T) | gnomAD v4 |
2 | g.108897253T>C | CA535179326 | EDAR,RANBP2 | c.1025-24A>G (n.1025-24A>G) c.1121-24A>G (n.1121-24A>G) c.1172-24A>G (n.1172-24A>G) c.1076-24A>G (n.1076-24A>G) c.452-24A>G (n.452-24A>G) c.1265-24A>G (n.1265-24A>G) c.1169-24A>G (n.1169-24A>G) c.8370+124207T>C (n.8370+124207T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897253T= | CA1278354346 | EDAR,RANBP2 | c.1025-24A= (n.1025-24A=) c.1121-24A= (n.1121-24A=) c.1172-24A= (n.1172-24A=) c.1076-24A= (n.1076-24A=) c.452-24A= (n.452-24A=) c.1265-24A= (n.1265-24A=) c.1169-24A= (n.1169-24A=) c.8370+124207T= (n.8370+124207T=) | |
2 | g.108897254A= | CA1278354347 | EDAR,RANBP2 | c.1025-25T= (n.1025-25T=) c.1121-25T= (n.1121-25T=) c.1172-25T= (n.1172-25T=) c.1076-25T= (n.1076-25T=) c.452-25T= (n.452-25T=) c.1265-25T= (n.1265-25T=) c.1169-25T= (n.1169-25T=) c.8370+124208A= (n.8370+124208A=) | |
2 | g.108897254A>G | CA535179327 | EDAR,RANBP2 | c.1025-25T>C (n.1025-25T>C) c.1121-25T>C (n.1121-25T>C) c.1172-25T>C (n.1172-25T>C) c.1076-25T>C (n.1076-25T>C) c.452-25T>C (n.452-25T>C) c.1265-25T>C (n.1265-25T>C) c.1169-25T>C (n.1169-25T>C) c.8370+124208A>G (n.8370+124208A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897256A>G | CA2660593666 | EDAR,RANBP2 | c.1025-27T>C (n.1025-27T>C) c.1121-27T>C (n.1121-27T>C) c.1172-27T>C (n.1172-27T>C) c.1076-27T>C (n.1076-27T>C) c.452-27T>C (n.452-27T>C) c.1265-27T>C (n.1265-27T>C) c.1169-27T>C (n.1169-27T>C) c.8370+124210A>G (n.8370+124210A>G) | gnomAD v4 |
2 | g.108897259T>C | CA754956309 | EDAR,RANBP2 | c.1025-30A>G (n.1025-30A>G) c.1121-30A>G (n.1121-30A>G) c.1172-30A>G (n.1172-30A>G) c.1076-30A>G (n.1076-30A>G) c.452-30A>G (n.452-30A>G) c.1265-30A>G (n.1265-30A>G) c.1169-30A>G (n.1169-30A>G) c.8370+124213T>C (n.8370+124213T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108897259T= | CA1278354348 | EDAR,RANBP2 | c.1025-30A= (n.1025-30A=) c.1121-30A= (n.1121-30A=) c.1172-30A= (n.1172-30A=) c.1076-30A= (n.1076-30A=) c.452-30A= (n.452-30A=) c.1265-30A= (n.1265-30A=) c.1169-30A= (n.1169-30A=) c.8370+124213T= (n.8370+124213T=) | |
2 | g.108897260T>G | CA535179328 | EDAR,RANBP2 | c.1025-31A>C (n.1025-31A>C) c.1121-31A>C (n.1121-31A>C) c.1172-31A>C (n.1172-31A>C) c.1076-31A>C (n.1076-31A>C) c.452-31A>C (n.452-31A>C) c.1265-31A>C (n.1265-31A>C) c.1169-31A>C (n.1169-31A>C) c.8370+124214T>G (n.8370+124214T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897260T= | CA1278354349 | EDAR,RANBP2 | c.1025-31A= (n.1025-31A=) c.1121-31A= (n.1121-31A=) c.1172-31A= (n.1172-31A=) c.1076-31A= (n.1076-31A=) c.452-31A= (n.452-31A=) c.1265-31A= (n.1265-31A=) c.1169-31A= (n.1169-31A=) c.8370+124214T= (n.8370+124214T=) | |
2 | g.108897261G>A | CA2577065503 | EDAR,RANBP2 | c.1025-32C>T (n.1025-32C>T) c.1121-32C>T (n.1121-32C>T) c.1172-32C>T (n.1172-32C>T) c.1076-32C>T (n.1076-32C>T) c.452-32C>T (n.452-32C>T) c.1265-32C>T (n.1265-32C>T) c.1169-32C>T (n.1169-32C>T) c.8370+124215G>A (n.8370+124215G>A) | gnomAD v4 |
2 | g.108897261G= | CA1278354350 | EDAR,RANBP2 | c.1025-32C= (n.1025-32C=) c.1121-32C= (n.1121-32C=) c.1172-32C= (n.1172-32C=) c.1076-32C= (n.1076-32C=) c.452-32C= (n.452-32C=) c.1265-32C= (n.1265-32C=) c.1169-32C= (n.1169-32C=) c.8370+124215G= (n.8370+124215G=) | |
2 | g.108897261G>T | CA535179329 | EDAR,RANBP2 | c.1025-32C>A (n.1025-32C>A) c.1121-32C>A (n.1121-32C>A) c.1172-32C>A (n.1172-32C>A) c.1076-32C>A (n.1076-32C>A) c.452-32C>A (n.452-32C>A) c.1265-32C>A (n.1265-32C>A) c.1169-32C>A (n.1169-32C>A) c.8370+124215G>T (n.8370+124215G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897262C>G | CA2660593667 | EDAR,RANBP2 | c.1025-33G>C (n.1025-33G>C) c.1121-33G>C (n.1121-33G>C) c.1172-33G>C (n.1172-33G>C) c.1076-33G>C (n.1076-33G>C) c.452-33G>C (n.452-33G>C) c.1265-33G>C (n.1265-33G>C) c.1169-33G>C (n.1169-33G>C) c.8370+124216C>G (n.8370+124216C>G) | gnomAD v4 |
2 | g.108897265G>A | CA1824835 | EDAR,RANBP2 | c.1025-36C>T (n.1025-36C>T) c.1121-36C>T (n.1121-36C>T) c.1172-36C>T (n.1172-36C>T) c.1076-36C>T (n.1076-36C>T) c.452-36C>T (n.452-36C>T) c.1265-36C>T (n.1265-36C>T) c.1169-36C>T (n.1169-36C>T) c.8370+124219G>A (n.8370+124219G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108897265G= | CA1278354351 | EDAR,RANBP2 | c.1025-36C= (n.1025-36C=) c.1121-36C= (n.1121-36C=) c.1172-36C= (n.1172-36C=) c.1076-36C= (n.1076-36C=) c.452-36C= (n.452-36C=) c.1265-36C= (n.1265-36C=) c.1169-36C= (n.1169-36C=) c.8370+124219G= (n.8370+124219G=) | |
2 | g.108897265G>T | CA2577065504 | EDAR,RANBP2 | c.1025-36C>A (n.1025-36C>A) c.1121-36C>A (n.1121-36C>A) c.1172-36C>A (n.1172-36C>A) c.1076-36C>A (n.1076-36C>A) c.452-36C>A (n.452-36C>A) c.1265-36C>A (n.1265-36C>A) c.1169-36C>A (n.1169-36C>A) c.8370+124219G>T (n.8370+124219G>T) | |
2 | g.108897266T>G | CA754956321 | EDAR,RANBP2 | c.1025-37A>C (n.1025-37A>C) c.1121-37A>C (n.1121-37A>C) c.1172-37A>C (n.1172-37A>C) c.1076-37A>C (n.1076-37A>C) c.452-37A>C (n.452-37A>C) c.1265-37A>C (n.1265-37A>C) c.1169-37A>C (n.1169-37A>C) c.8370+124220T>G (n.8370+124220T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108897266T= | CA1278354352 | EDAR,RANBP2 | c.1025-37A= (n.1025-37A=) c.1121-37A= (n.1121-37A=) c.1172-37A= (n.1172-37A=) c.1076-37A= (n.1076-37A=) c.452-37A= (n.452-37A=) c.1265-37A= (n.1265-37A=) c.1169-37A= (n.1169-37A=) c.8370+124220T= (n.8370+124220T=) | |
2 | g.108897267C>A | CA2660593668 | EDAR,RANBP2 | c.1025-38G>T (n.1025-38G>T) c.1121-38G>T (n.1121-38G>T) c.1172-38G>T (n.1172-38G>T) c.1076-38G>T (n.1076-38G>T) c.452-38G>T (n.452-38G>T) c.1265-38G>T (n.1265-38G>T) c.1169-38G>T (n.1169-38G>T) c.8370+124221C>A (n.8370+124221C>A) | gnomAD v4 |
2 | g.108897267C= | CA1278354353 | EDAR,RANBP2 | c.1025-38G= (n.1025-38G=) c.1121-38G= (n.1121-38G=) c.1172-38G= (n.1172-38G=) c.1076-38G= (n.1076-38G=) c.452-38G= (n.452-38G=) c.1265-38G= (n.1265-38G=) c.1169-38G= (n.1169-38G=) c.8370+124221C= (n.8370+124221C=) | |
2 | g.108897267C>G | CA2660593669 | EDAR,RANBP2 | c.1025-38G>C (n.1025-38G>C) c.1121-38G>C (n.1121-38G>C) c.1172-38G>C (n.1172-38G>C) c.1076-38G>C (n.1076-38G>C) c.452-38G>C (n.452-38G>C) c.1265-38G>C (n.1265-38G>C) c.1169-38G>C (n.1169-38G>C) c.8370+124221C>G (n.8370+124221C>G) | gnomAD v4 |
2 | g.108897267C>T | CA535179330 | EDAR,RANBP2 | c.1025-38G>A (n.1025-38G>A) c.1121-38G>A (n.1121-38G>A) c.1172-38G>A (n.1172-38G>A) c.1076-38G>A (n.1076-38G>A) c.452-38G>A (n.452-38G>A) c.1265-38G>A (n.1265-38G>A) c.1169-38G>A (n.1169-38G>A) c.8370+124221C>T (n.8370+124221C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897269C>T | CA2660593670 | EDAR,RANBP2 | c.1025-40G>A (n.1025-40G>A) c.1121-40G>A (n.1121-40G>A) c.1172-40G>A (n.1172-40G>A) c.1076-40G>A (n.1076-40G>A) c.452-40G>A (n.452-40G>A) c.1265-40G>A (n.1265-40G>A) c.1169-40G>A (n.1169-40G>A) c.8370+124223C>T (n.8370+124223C>T) | gnomAD v4 |
2 | g.108897270A= | CA1278354354 | EDAR,RANBP2 | c.1025-41T= (n.1025-41T=) c.1121-41T= (n.1121-41T=) c.1172-41T= (n.1172-41T=) c.1076-41T= (n.1076-41T=) c.452-41T= (n.452-41T=) c.1265-41T= (n.1265-41T=) c.1169-41T= (n.1169-41T=) c.8370+124224A= (n.8370+124224A=) | |
2 | g.108897270A>C | CA1278354355 | EDAR,RANBP2 | c.1025-41T>G (n.1025-41T>G) c.1121-41T>G (n.1121-41T>G) c.1172-41T>G (n.1172-41T>G) c.1076-41T>G (n.1076-41T>G) c.452-41T>G (n.452-41T>G) c.1265-41T>G (n.1265-41T>G) c.1169-41T>G (n.1169-41T>G) c.8370+124224A>C (n.8370+124224A>C) | dbSNP gnomAD v4 |
2 | g.108897270A>G | CA1824836 | EDAR,RANBP2 | c.1025-41T>C (n.1025-41T>C) c.1121-41T>C (n.1121-41T>C) c.1172-41T>C (n.1172-41T>C) c.1076-41T>C (n.1076-41T>C) c.452-41T>C (n.452-41T>C) c.1265-41T>C (n.1265-41T>C) c.1169-41T>C (n.1169-41T>C) c.8370+124224A>G (n.8370+124224A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897271G>T | CA2660593671 | EDAR,RANBP2 | c.1025-42C>A (n.1025-42C>A) c.1121-42C>A (n.1121-42C>A) c.1172-42C>A (n.1172-42C>A) c.1076-42C>A (n.1076-42C>A) c.452-42C>A (n.452-42C>A) c.1265-42C>A (n.1265-42C>A) c.1169-42C>A (n.1169-42C>A) c.8370+124225G>T (n.8370+124225G>T) | gnomAD v4 |
2 | g.108897273C>A | CA2660593672 | EDAR,RANBP2 | c.1025-44G>T (n.1025-44G>T) c.1121-44G>T (n.1121-44G>T) c.1172-44G>T (n.1172-44G>T) c.1076-44G>T (n.1076-44G>T) c.452-44G>T (n.452-44G>T) c.1265-44G>T (n.1265-44G>T) c.1169-44G>T (n.1169-44G>T) c.8370+124227C>A (n.8370+124227C>A) | gnomAD v4 |
2 | g.108897274A= | CA1278354357 | EDAR,RANBP2 | c.1025-45T= (n.1025-45T=) c.1121-45T= (n.1121-45T=) c.1172-45T= (n.1172-45T=) c.1076-45T= (n.1076-45T=) c.452-45T= (n.452-45T=) c.1265-45T= (n.1265-45T=) c.1169-45T= (n.1169-45T=) c.8370+124228A= (n.8370+124228A=) | |
2 | g.108897274A>T | CA1278354356 | EDAR,RANBP2 | c.1025-45T>A (n.1025-45T>A) c.1121-45T>A (n.1121-45T>A) c.1172-45T>A (n.1172-45T>A) c.1076-45T>A (n.1076-45T>A) c.452-45T>A (n.452-45T>A) c.1265-45T>A (n.1265-45T>A) c.1169-45T>A (n.1169-45T>A) c.8370+124228A>T (n.8370+124228A>T) | dbSNP gnomAD v4 |